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Severe Paediatric Disorders v1.183 C12orf4 Arina Puzriakova Phenotypes for gene: C12orf4 were changed from Mental retardation, autosomal recessive 66, 618221 to Intellectual developmental disorder, autosomal recessive 66, OMIM:618221
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Green List (high evidence)
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.177 CPA6 Sarah Leigh Classified gene: CPA6 as Red List (low evidence)
Severe Paediatric Disorders v1.177 CPA6 Sarah Leigh Gene: cpa6 has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.176 FAM111A Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Classified gene: SLC6A20 as Red List (low evidence)
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Gene: slc6a20 has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.161 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Severe Paediatric Disorders v1.159 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 32644502; Phenotypes: pellagra, cerebellar ataxia, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe Paediatric Disorders v1.159 DCC Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract

in relation to the condition HGPPS2 (See OMIM)
there was only 1 report before, but evidence building now
Severe Paediatric Disorders v1.151 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Severe Paediatric Disorders v1.149 KPTN Sarah Leigh Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
Severe Paediatric Disorders v1.147 DEPDC5 Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32848577, 36067010; Phenotypes: Epilepsy, familial focal, with variable foci 1, OMIM:604364, epilepsy, MONDO:0005027, Macrocephaly, HP:0000256, polymicrogyria, MONDO:0000087, cerebral cortical dysplasia, MONDO:0017094, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh edited their review of gene: STXBP1: Added comment: PMID: 31855252 reports a homozygous STXBP1 variant (NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)) in two sisters with developmental and epileptic encephalopathy 4 (OMIM:612164). Their mother and unaffected sister were heterozygous for NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)(the father was deceased). Functional studies showed that this variant had a lesser effect on protein stability in comparison with the heterozygous variants previously reported. However, patch clamp recordings demonstrated that p.Leu446Phe causes a 2-fold increase in evoked synaptic transmission, leading to the conclusion that this variant was having a gain-of-function effect. Although the majority of STXBP1 variants are heterozygous, with a loss-of -function effect, the results published in PMID: 31855252, suggest that there maybe further complexity to mechanisms involved in the development of developmental and epileptic encephalopathy 4. PMID: 35190816 used a computational approach, together with biomedical ontologies, to characterize phenotypic features in STXBP1-related disorders, such that groups of HPO terms could be associated with certain STXBP1 variants.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.134 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from HoyeraalHreidarsson syndrome to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Severe Paediatric Disorders v1.132 ZNF292 Sarah Leigh Classified gene: ZNF292 as Green List (high evidence)
Severe Paediatric Disorders v1.132 ZNF292 Sarah Leigh Gene: znf292 has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.129 STUB1 Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526
Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Classified gene: PRODH as Green List (high evidence)
Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Gene: prodh has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.119 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Severe Paediatric Disorders v1.117 ALB Arina Puzriakova Added comment: Comment on mode of inheritance: MOI rectified from 'X-linked' to 'Both mono- and biallelic'. Autosomal gene associated with congenial analbuminemia (recessive phenotype, MIM# 616000) and familial dysalbuminaemic hyperthyroxinaemia (mostly dominant phenotype with single recessive case, MIM# 615999).
Severe Paediatric Disorders v1.112 H19 Sarah Leigh Phenotypes for gene: H19 were changed from Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650
Severe Paediatric Disorders v1.110 CARD14 Arina Puzriakova Phenotypes for gene: CARD14 were changed from Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Severe Paediatric Disorders v1.102 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Severe Paediatric Disorders v1.97 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Porokeratosis 3, multiple types, OMIM:175900
Severe Paediatric Disorders v1.94 IL36RN Arina Puzriakova Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, 614204 to Psoriasis 14, pustular, OMIM:614204
Severe Paediatric Disorders v1.91 AR Arina Puzriakova Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300; Hypospadias 1, X-linked, OMIM:300633; Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Severe Paediatric Disorders v1.87 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
Severe Paediatric Disorders v1.87 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.86 DMPK Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
Severe Paediatric Disorders v1.86 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Severe Paediatric Disorders v1.86 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2, 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Severe Paediatric Disorders v1.85 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Dentatorubral-pallidoluysian atrophy, OMIM:125370
Severe Paediatric Disorders v1.82 FDX2 Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Classified gene: DMPK as Red List (low evidence)
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Gene: dmpk has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.80 ATP6V1A Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403; Developmental and epileptic encephalopathy 93, OMIM:618012
Severe Paediatric Disorders v1.79 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Severe Paediatric Disorders v1.78 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
Severe Paediatric Disorders v1.78 NAXE Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Severe Paediatric Disorders v1.73 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Severe Paediatric Disorders v1.72 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Severe Paediatric Disorders v1.71 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Severe Paediatric Disorders v1.70 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Severe Paediatric Disorders v1.61 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia, type 10, 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Severe Paediatric Disorders v1.57 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Severe Paediatric Disorders v1.54 KNL1 Arina Puzriakova Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Severe Paediatric Disorders v1.52 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Severe Paediatric Disorders v1.51 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651 to {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924; Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Severe Paediatric Disorders v1.50 HMGA2 Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Severe Paediatric Disorders v1.49 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, 128100 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218; Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
Severe Paediatric Disorders v1.47 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, 618435 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Severe Paediatric Disorders v1.46 TMEM38B Arina Puzriakova Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV, 615066 to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Severe Paediatric Disorders v1.44 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Severe Paediatric Disorders v1.43 TRAPPC12 Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Severe Paediatric Disorders v1.42 KIF14 Arina Puzriakova Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Severe Paediatric Disorders v1.38 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5, 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Severe Paediatric Disorders v1.37 AP4B1 Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Severe Paediatric Disorders v1.35 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Severe Paediatric Disorders v1.26 KCNMA1 Arina Puzriakova Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886
Severe Paediatric Disorders v1.25 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Severe Paediatric Disorders v1.24 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from Hyperlysinemia, 238700; Saccharopinuria, 268700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Severe Paediatric Disorders v1.22 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Severe Paediatric Disorders v1.20 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Severe Paediatric Disorders v1.12 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Severe Paediatric Disorders v1.10 TUBB2A Arina Puzriakova reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe Paediatric Disorders v1.6 QRSL1 Eleanor Williams Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835
Severe Paediatric Disorders v1.5 SMARCD1 Eleanor Williams Phenotypes for gene: SMARCD1 were changed from Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand to Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand; Coffin-Siris syndrome 11, 618779
Severe Paediatric Disorders v1.1 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: None
Severe Paediatric Disorders v1.0 Louise Daugherty promoted panel to version 1.0
Severe Paediatric Disorders v0.12 SIM1 Louise Daugherty reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 VARS Louise Daugherty edited their review of gene: VARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 TMEM173 Louise Daugherty edited their review of gene: TMEM173: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TMEM173; Recommended initial gene rating: Green List (high evidence); Phenotypes: STING-associated vasculopathy, infantile-onset, 615934 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 SIX5 Louise Daugherty reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIX3 Louise Daugherty reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIX1 Louise Daugherty reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIN3A Louise Daugherty reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SIK1 Louise Daugherty reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SI Louise Daugherty reviewed gene: SI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SEPT9 Louise Daugherty edited their review of gene: SEPT9: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SEPTIN9; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophy, hereditary neuralgic, 162100 (3) | Leukemia, acute myeloid, therapy-related (1) | Ovarian carcinoma (1); Mode of inheritance: Autosomal dominant | ND | ND; Changed rating: AMBER
Severe Paediatric Disorders v0.12 TMEM5 Louise Daugherty edited their review of gene: TMEM5: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TMEM5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 RARS Louise Daugherty edited their review of gene: RARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 9, 616140 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 QARS Louise Daugherty edited their review of gene: QARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: QARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DFNB59 Louise Daugherty edited their review of gene: DFNB59: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PJVK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal recessive 59, 610220 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C2orf71 Louise Daugherty edited their review of gene: C2orf71: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PCARE; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinitis pigmentosa 54, 613428 (3); Mode of inheritance: ND; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C4orf26 Louise Daugherty edited their review of gene: C4orf26: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ODAPH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amelogenesis imperfecta, type IIA4, 614832 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 MUT Louise Daugherty edited their review of gene: MUT: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MMUT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Methylmalonic aciduria, mut(0) type, 251000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C19orf70 Louise Daugherty edited their review of gene: C19orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MICOS13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KIF1BP Louise Daugherty edited their review of gene: KIF1BP: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KIFBP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Goldberg-Shprintzen megacolon syndrome, 609460 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KARS Louise Daugherty edited their review of gene: KARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) | Deafness, autosomal recessive 89, 613916 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 IARS Louise Daugherty edited their review of gene: IARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HFE2 Louise Daugherty edited their review of gene: HFE2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HJV; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HIST1H1E Louise Daugherty edited their review of gene: HIST1H1E: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: H1-4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rahman syndrome, 617537 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DFNA5 Louise Daugherty edited their review of gene: DFNA5: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GSDME; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 5, 600994 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GARS Louise Daugherty edited their review of gene: GARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 EPRS Louise Daugherty edited their review of gene: EPRS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EPRS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 15, 617951 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DARS Louise Daugherty edited their review of gene: DARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CRPPA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C5orf42 Louise Daugherty edited their review of gene: C5orf42: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CPLANE1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 17, 614615 (3) | Orofaciodigital syndrome VI, 277170 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 APOPT1 Louise Daugherty edited their review of gene: APOPT1: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COA8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: Autosomal recessive, Mitochondrial; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ICK Louise Daugherty edited their review of gene: ICK: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CILK1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Endocrine-cerebroosteodysplasia, 612651 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C21orf2 Louise Daugherty edited their review of gene: C21orf2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP410; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinal dystrophy with macular staphyloma, 617547 (3) | Spondylometaphyseal dysplasia, axial, 602271 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C11orf70 Louise Daugherty edited their review of gene: C11orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 38, 618063 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 COL4A3BP Louise Daugherty edited their review of gene: COL4A3BP: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CERT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal dominant 34, 616351 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 FAM58A Louise Daugherty edited their review of gene: FAM58A: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CCNQ; Recommended initial gene rating: Green List (high evidence); Phenotypes: STAR syndrome, 300707 (3); Mode of inheritance: X-linked dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 WISP3 Louise Daugherty edited their review of gene: WISP3: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CCN6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) | Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GIF Louise Daugherty edited their review of gene: GIF: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CBLIF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intrinsic factor deficiency, 261000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CARS Louise Daugherty edited their review of gene: CARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nail; Mode of inheritance: ; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ATP5D Louise Daugherty edited their review of gene: ATP5D: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATP5F1D; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ARSE Louise Daugherty edited their review of gene: ARSE: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ARSL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia punctata, X-linked recessive, 302950 (3); Mode of inheritance: X-linked recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ADPRHL2 Louise Daugherty edited their review of gene: ADPRHL2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ADPRS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 AARS Louise Daugherty edited their review of gene: AARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 SIM1 Louise Daugherty Publications for gene SIM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIGMAR1 Louise Daugherty Publications for gene SIGMAR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX5 Louise Daugherty Publications for gene SIX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX3 Louise Daugherty Publications for gene SIX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX1 Louise Daugherty Publications for gene SIX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIN3A Louise Daugherty Publications for gene SIN3A were updated from to 30847515
Severe Paediatric Disorders v0.11 SIL1 Louise Daugherty Publications for gene SIL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIK1 Louise Daugherty Publications for gene SIK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SI Louise Daugherty Publications for gene SI were updated from to 30847515
Severe Paediatric Disorders v0.10 VPS35 Louise Daugherty Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
Severe Paediatric Disorders v0.10 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.10 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.10 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.10 NRXN3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
Severe Paediatric Disorders v0.10 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.10 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.10 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.10 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.10 UNC119 Louise Daugherty Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
Severe Paediatric Disorders v0.10 SNAP25 Louise Daugherty Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
Severe Paediatric Disorders v0.10 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.10 SIGMAR1 Louise Daugherty Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
Severe Paediatric Disorders v0.10 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.10 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.10 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.10 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.10 PEX11B Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Severe Paediatric Disorders v0.10 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.10 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.10 IL17F Louise Daugherty Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
Severe Paediatric Disorders v0.10 HYAL1 Louise Daugherty Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
Severe Paediatric Disorders v0.10 FRMD4A Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
Severe Paediatric Disorders v0.10 APOL1 Louise Daugherty Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
Severe Paediatric Disorders v0.10 ACD Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
Severe Paediatric Disorders v0.10 ZSWIM6 Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
Severe Paediatric Disorders v0.10 ZMPSTE24 Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
Severe Paediatric Disorders v0.10 ZIC1 Louise Daugherty Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
Severe Paediatric Disorders v0.10 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.10 ZFP57 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Severe Paediatric Disorders v0.10 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Severe Paediatric Disorders v0.10 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.10 WWOX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
Severe Paediatric Disorders v0.10 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.10 WRAP53 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 for gene: WRAP53
Severe Paediatric Disorders v0.10 WNT10B Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
Severe Paediatric Disorders v0.10 WNT10A Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
Severe Paediatric Disorders v0.10 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.10 WDR62 Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
Severe Paediatric Disorders v0.10 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.10 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.10 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.10 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.10 WARS2 Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Severe Paediatric Disorders v0.10 VRK1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 for gene: VRK1
Severe Paediatric Disorders v0.10 VPS53 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 for gene: VPS53
Severe Paediatric Disorders v0.10 VPS45 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 for gene: VPS45
Severe Paediatric Disorders v0.10 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.10 VPS13D Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D
Severe Paediatric Disorders v0.10 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.10 VMA21 Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.10 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.10 VKORC1 Louise Daugherty Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700 for gene: VKORC1
Severe Paediatric Disorders v0.10 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.10 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.10 VDR Louise Daugherty Added phenotypes Rickets, vitamin D-resistant, type IIA, 277440 for gene: VDR
Severe Paediatric Disorders v0.10 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.10 UVSSA Louise Daugherty Added phenotypes UV-sensitive syndrome 3, 614640 for gene: UVSSA
Severe Paediatric Disorders v0.10 USH1C Louise Daugherty Added phenotypes Usher syndrome, type 1C, 276904; Deafness, autosomal recessive 18A, 602092 for gene: USH1C
Severe Paediatric Disorders v0.10 UNC13D Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 for gene: UNC13D
Severe Paediatric Disorders v0.10 UGT1A1 Louise Daugherty Added phenotypes Crigler-Najjar syndrome, type I, 218800; Crigler-Najjar syndrome, type II, 606785; Hyperbilirubinemia, familial transient neonatal, 237900 for gene: UGT1A1
Severe Paediatric Disorders v0.10 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.10 UBA5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
Severe Paediatric Disorders v0.10 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.10 TWNK Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
Severe Paediatric Disorders v0.10 TWIST2 Louise Daugherty Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2
Severe Paediatric Disorders v0.10 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.10 TUSC3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 7, 611093 for gene: TUSC3
Severe Paediatric Disorders v0.10 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.10 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.10 TUBG1 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
Severe Paediatric Disorders v0.10 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.10 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.10 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.10 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.10 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.10 TUBA8 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
Severe Paediatric Disorders v0.10 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.10 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.10 TTI2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 39, 615541 for gene: TTI2
Severe Paediatric Disorders v0.10 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.10 TSEN54 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 for gene: TSEN54
Severe Paediatric Disorders v0.10 TSEN2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 for gene: TSEN2
Severe Paediatric Disorders v0.10 TSC2 Louise Daugherty Added phenotypes Tuberous sclerosis-2, 613254 for gene: TSC2
Severe Paediatric Disorders v0.10 TSC1 Louise Daugherty Added phenotypes Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690 for gene: TSC1
Severe Paediatric Disorders v0.10 TRPV6 Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
Severe Paediatric Disorders v0.10 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.10 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.10 TRPM1 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Severe Paediatric Disorders v0.10 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.10 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.10 TRMU Louise Daugherty Added phenotypes Liver failure, transient infantile, 613070 for gene: TRMU
Severe Paediatric Disorders v0.10 TRMT1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 68, 618302 for gene: TRMT1
Severe Paediatric Disorders v0.10 TRIP11 Louise Daugherty Added phenotypes Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600 for gene: TRIP11
Severe Paediatric Disorders v0.10 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.10 TRIM32 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Severe Paediatric Disorders v0.10 TREX1 Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
Severe Paediatric Disorders v0.10 TREM2 Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Severe Paediatric Disorders v0.10 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.10 TRAPPC2 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Severe Paediatric Disorders v0.10 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.10 TRAPPC11 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 for gene: TRAPPC11
Severe Paediatric Disorders v0.10 TPP1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1
Severe Paediatric Disorders v0.10 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.10 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.10 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.10 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.10 TOR1A Louise Daugherty Added phenotypes Dystonia-1, torsion, 128100 for gene: TOR1A
Severe Paediatric Disorders v0.10 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.10 TOE1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 for gene: TOE1
Severe Paediatric Disorders v0.10 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.10 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.10 TNFSF11 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 2, 259710 for gene: TNFSF11
Severe Paediatric Disorders v0.10 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.10 TMPRSS3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 8/10, 601072 for gene: TMPRSS3
Severe Paediatric Disorders v0.10 TMIE Louise Daugherty Added phenotypes Deafness, autosomal recessive 6, 600971 for gene: TMIE
Severe Paediatric Disorders v0.10 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.10 TMEM43 Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
Severe Paediatric Disorders v0.10 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.10 TMC8 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Severe Paediatric Disorders v0.10 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.10 TMC1 Louise Daugherty Added phenotypes Deafness, autosomal dominant 36, 606705; Deafness, autosomal recessive 7, 600974 for gene: TMC1
Severe Paediatric Disorders v0.10 TK2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
Severe Paediatric Disorders v0.10 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.10 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.10 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.10 THAP1 Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
Severe Paediatric Disorders v0.10 TH Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
Severe Paediatric Disorders v0.10 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.10 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.10 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.10 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.10 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.10 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.10 TERC Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC
Severe Paediatric Disorders v0.10 TECTA Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA
Severe Paediatric Disorders v0.10 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.10 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.10 TCIRG1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 for gene: TCIRG1
Severe Paediatric Disorders v0.10 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.10 TCAP Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
Severe Paediatric Disorders v0.10 TBX6 Louise Daugherty Added phenotypes Spondylocostal dysostosis 5, 122600 for gene: TBX6
Severe Paediatric Disorders v0.10 TBX4 Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
Severe Paediatric Disorders v0.10 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.10 TBX15 Louise Daugherty Added phenotypes Cousin syndrome, 260660 for gene: TBX15
Severe Paediatric Disorders v0.10 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.10 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.10 TBCD Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
Severe Paediatric Disorders v0.10 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.10 TBC1D23 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 for gene: TBC1D23
Severe Paediatric Disorders v0.10 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.10 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.10 TAPT1 Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
Severe Paediatric Disorders v0.10 TANGO2 Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
Severe Paediatric Disorders v0.10 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.10 STXBP2 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2
Severe Paediatric Disorders v0.10 STX11 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 for gene: STX11
Severe Paediatric Disorders v0.10 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.10 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.10 STRC Louise Daugherty Added phenotypes Deafness, autosomal recessive 16, 603720 for gene: STRC
Severe Paediatric Disorders v0.10 STIL Louise Daugherty Added phenotypes Microcephaly 7, primary, autosomal recessive, 612703 for gene: STIL
Severe Paediatric Disorders v0.10 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.10 STAT1 Louise Daugherty Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1
Severe Paediatric Disorders v0.10 STAR Louise Daugherty Added phenotypes Lipoid adrenal hyperplasia, 201710 for gene: STAR
Severe Paediatric Disorders v0.10 ST3GAL5 Louise Daugherty Added phenotypes Salt and pepper developmental regression syndrome, 609056 for gene: ST3GAL5
Severe Paediatric Disorders v0.10 ST3GAL3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
Severe Paediatric Disorders v0.10 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.10 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.10 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.10 SPTA1 Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1
Severe Paediatric Disorders v0.10 SPR Louise Daugherty Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR
Severe Paediatric Disorders v0.10 SPPL2A Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
Severe Paediatric Disorders v0.10 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.10 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.10 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.10 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.10 SOX9 Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
Severe Paediatric Disorders v0.10 SOX4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 10, 618506 for gene: SOX4
Severe Paediatric Disorders v0.10 SOX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
Severe Paediatric Disorders v0.10 SOX17 Louise Daugherty Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Severe Paediatric Disorders v0.10 SOX11 Louise Daugherty Added phenotypes Coffin-Siris syndrome 9, 615866 for gene: SOX11
Severe Paediatric Disorders v0.10 SOST Louise Daugherty Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; Van Buchem disease, 239100 for gene: SOST
Severe Paediatric Disorders v0.10 SNX14 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
Severe Paediatric Disorders v0.10 SNX10 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 8, 615085 for gene: SNX10
Severe Paediatric Disorders v0.10 SNAP29 Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
Severe Paediatric Disorders v0.10 SMARCE1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 5, 616938 for gene: SMARCE1
Severe Paediatric Disorders v0.10 SMARCC2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 8, 618362 for gene: SMARCC2
Severe Paediatric Disorders v0.10 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.10 SMARCAL1 Louise Daugherty Added phenotypes Schimke immunoosseous dysplasia, 242900 for gene: SMARCAL1
Severe Paediatric Disorders v0.10 SMARCA4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 4, 614609 for gene: SMARCA4
Severe Paediatric Disorders v0.10 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.10 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.10 SLC7A7 Louise Daugherty Added phenotypes Lysinuric protein intolerance, 222700 for gene: SLC7A7
Severe Paediatric Disorders v0.10 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.10 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.10 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
Severe Paediatric Disorders v0.10 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.10 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.10 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.10 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.10 SLC35D1 Louise Daugherty Added phenotypes Schneckenbecken dysplasia, 269250 for gene: SLC35D1
Severe Paediatric Disorders v0.10 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.10 SLC2A10 Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10
Severe Paediatric Disorders v0.10 SLC2A1 Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
Severe Paediatric Disorders v0.10 SLC29A3 Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
Severe Paediatric Disorders v0.10 SLC27A4 Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
Severe Paediatric Disorders v0.10 SLC26A4 Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
Severe Paediatric Disorders v0.10 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.10 SLC25A42 Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
Severe Paediatric Disorders v0.10 SLC25A4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
Severe Paediatric Disorders v0.10 SLC25A38 Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Severe Paediatric Disorders v0.10 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.10 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.10 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.10 SLC19A2 Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
Severe Paediatric Disorders v0.10 SLC17A5 Louise Daugherty Added phenotypes Sialic acid storage disorder, infantile, 269920; Salla disease, 604369 for gene: SLC17A5
Severe Paediatric Disorders v0.10 SLC12A6 Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
Severe Paediatric Disorders v0.10 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.10 SIX5 Louise Daugherty Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Severe Paediatric Disorders v0.10 SIX3 Louise Daugherty Added phenotypes Holoprosencephaly 2, 157170; Schizencephaly, 269160 for gene: SIX3
Severe Paediatric Disorders v0.10 SIX1 Louise Daugherty Added phenotypes Branchiootic syndrome 3, 608389; Deafness, autosomal dominant 23, 605192 for gene: SIX1
Severe Paediatric Disorders v0.10 SIN3A Louise Daugherty Added phenotypes Witteveen-Kolk syndrome, 613406 for gene: SIN3A
Severe Paediatric Disorders v0.10 SIL1 Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Severe Paediatric Disorders v0.10 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
Severe Paediatric Disorders v0.10 SI Louise Daugherty Added phenotypes Sucrase-isomaltase deficiency, congenital, 222900 for gene: SI
Severe Paediatric Disorders v0.10 SHOX Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
Severe Paediatric Disorders v0.10 SHH Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
Severe Paediatric Disorders v0.10 SGSH Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 for gene: SGSH
Severe Paediatric Disorders v0.10 SGCG Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 for gene: SGCG
Severe Paediatric Disorders v0.10 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.10 SGCB Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 for gene: SGCB
Severe Paediatric Disorders v0.10 SGCA Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 for gene: SGCA
Severe Paediatric Disorders v0.10 SF3B4 Louise Daugherty Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Severe Paediatric Disorders v0.10 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.10 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.10 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.10 SEPSECS Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Severe Paediatric Disorders v0.10 SCNN1B Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
Severe Paediatric Disorders v0.10 SCNN1A Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
Severe Paediatric Disorders v0.10 SCN9A Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
Severe Paediatric Disorders v0.10 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.10 SCARB2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
Severe Paediatric Disorders v0.10 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.10 SARS2 Louise Daugherty Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2
Severe Paediatric Disorders v0.10 SAMD9 Louise Daugherty Added phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455; MIRAGE syndrome, 617053 for gene: SAMD9
Severe Paediatric Disorders v0.10 RYR2 Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
Severe Paediatric Disorders v0.10 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.10 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.10 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.10 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.10 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.10 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.10 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.10 RRM2B Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
Severe Paediatric Disorders v0.10 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.10 RPGR Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
Severe Paediatric Disorders v0.10 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.10 ROR2 Louise Daugherty Added phenotypes Robinow syndrome, autosomal recessive, 268310; Brachydactyly, type B1, 113000 for gene: ROR2
Severe Paediatric Disorders v0.10 ROBO3 Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
Severe Paediatric Disorders v0.10 RNASEH1 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
Severe Paediatric Disorders v0.10 RMRP Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
Severe Paediatric Disorders v0.10 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.10 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.10 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.10 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.10 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.10 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.10 QRSL1 Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Severe Paediatric Disorders v0.10 QARS Louise Daugherty Added phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 for gene: QARS
Severe Paediatric Disorders v0.10 PYCR1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438 for gene: PYCR1
Severe Paediatric Disorders v0.10 PUS3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3
Severe Paediatric Disorders v0.10 PUS1 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
Severe Paediatric Disorders v0.10 PTPRC Louise Daugherty Added phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 for gene: PTPRC
Severe Paediatric Disorders v0.10 PTPN11 Louise Daugherty Added phenotypes Metachondromatosis, 156250; Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100 for gene: PTPN11
Severe Paediatric Disorders v0.10 PTH1R Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
Severe Paediatric Disorders v0.10 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.10 PSMD12 Louise Daugherty Added phenotypes Stankiewicz-Isidor syndrome, 617516 for gene: PSMD12
Severe Paediatric Disorders v0.10 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.10 PRSS12 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 1, 249500 for gene: PRSS12
Severe Paediatric Disorders v0.10 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.10 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.10 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.10 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.10 PRKD1 Louise Daugherty Added phenotypes Congenital heart defects and ectodermal dysplasia, 617364 for gene: PRKD1
Severe Paediatric Disorders v0.10 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.10 PRICKLE1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1B, 612437 for gene: PRICKLE1
Severe Paediatric Disorders v0.10 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.10 PPT1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 for gene: PPT1
Severe Paediatric Disorders v0.10 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.10 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.10 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.10 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.10 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.10 POP1 Louise Daugherty Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
Severe Paediatric Disorders v0.10 POLR1A Louise Daugherty Added phenotypes Acrofacial dysostosis, Cincinnati type, 616462 for gene: POLR1A
Severe Paediatric Disorders v0.10 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.10 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.10 POLD1 Louise Daugherty Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
Severe Paediatric Disorders v0.10 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.10 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.10 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.10 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.10 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.10 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.10 PMP22 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
Severe Paediatric Disorders v0.10 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.10 PLK4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
Severe Paediatric Disorders v0.10 PLEC Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
Severe Paediatric Disorders v0.10 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.10 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.10 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.10 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.10 PITX3 Louise Daugherty Added phenotypes Cataract 11, multiple types, 610623; Anterior segment dysgenesis 1, multiple subtypes, 107250; Cataract 11, syndromic, autosomal recessive, 610623 for gene: PITX3
Severe Paediatric Disorders v0.10 PITX2 Louise Daugherty Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2
Severe Paediatric Disorders v0.10 PIK3R1 Louise Daugherty Added phenotypes Immunodeficiency 36, 616005; SHORT syndrome, 269880; ?Agammaglobulinemia 7, autosomal recessive, 615214 for gene: PIK3R1
Severe Paediatric Disorders v0.10 PIGW Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
Severe Paediatric Disorders v0.10 PIGV Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
Severe Paediatric Disorders v0.10 PIGU Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
Severe Paediatric Disorders v0.10 PIGO Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
Severe Paediatric Disorders v0.10 PIGH Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
Severe Paediatric Disorders v0.10 PIGG Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG
Severe Paediatric Disorders v0.10 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.10 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.10 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.10 PHKG2 Louise Daugherty Added phenotypes Glycogen storage disease IXc, 613027; Cirrhosis due to liver phosphorylase kinase deficiency for gene: PHKG2
Severe Paediatric Disorders v0.10 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.10 PHKA1 Louise Daugherty Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Severe Paediatric Disorders v0.10 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.10 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.10 PGAP3 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
Severe Paediatric Disorders v0.10 PGAP2 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
Severe Paediatric Disorders v0.10 PGAP1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 42, 615802 for gene: PGAP1
Severe Paediatric Disorders v0.10 PEX7 Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
Severe Paediatric Disorders v0.10 PEX6 Louise Daugherty Added phenotypes Heimler syndrome 2, 616617; Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Severe Paediatric Disorders v0.10 PEX5 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110; Rhizomelic chondrodysplasia punctata, type 5, 616716; Peroxisome biogenesis disorder 2B, 202370 for gene: PEX5
Severe Paediatric Disorders v0.10 PEX3 Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Severe Paediatric Disorders v0.10 PEX26 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873 for gene: PEX26
Severe Paediatric Disorders v0.10 PEX2 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
Severe Paediatric Disorders v0.10 PEX19 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
Severe Paediatric Disorders v0.10 PEX16 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877 for gene: PEX16
Severe Paediatric Disorders v0.10 PEX14 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
Severe Paediatric Disorders v0.10 PEX13 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
Severe Paediatric Disorders v0.10 PEX12 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
Severe Paediatric Disorders v0.10 PEX10 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Severe Paediatric Disorders v0.10 PEX1 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
Severe Paediatric Disorders v0.10 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.10 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.10 PDE4D Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
Severe Paediatric Disorders v0.10 PDE3A Louise Daugherty Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
Severe Paediatric Disorders v0.10 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.10 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.10 PCDH15 Louise Daugherty Added phenotypes Deafness, autosomal recessive 23, 609533; Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067 for gene: PCDH15
Severe Paediatric Disorders v0.10 PCDH12 Louise Daugherty Added phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 for gene: PCDH12
Severe Paediatric Disorders v0.10 PAX9 Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
Severe Paediatric Disorders v0.10 PAX8 Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
Severe Paediatric Disorders v0.10 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.10 PAX2 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 7, 616002; Papillorenal syndrome, 120330 for gene: PAX2
Severe Paediatric Disorders v0.10 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.10 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.10 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.10 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.10 OTULIN Louise Daugherty Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, 617099 for gene: OTULIN
Severe Paediatric Disorders v0.10 OTOGL Louise Daugherty Added phenotypes Deafness, autosomal recessive 84B, 614944 for gene: OTOGL
Severe Paediatric Disorders v0.10 OTOF Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
Severe Paediatric Disorders v0.10 OTOA Louise Daugherty Added phenotypes Deafness, autosomal recessive 22, 607039 for gene: OTOA
Severe Paediatric Disorders v0.10 OSTM1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 for gene: OSTM1
Severe Paediatric Disorders v0.10 OSMR Louise Daugherty Added phenotypes Amyloidosis, primary localized cutaneous, 1, 105250 for gene: OSMR
Severe Paediatric Disorders v0.10 OPHN1 Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
Severe Paediatric Disorders v0.10 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.10 ODC1 Louise Daugherty Added phenotypes Global developmental delay; Ectodermal dysplasia; Alopecia; Intellectual disability; Macrocephaly for gene: ODC1
Severe Paediatric Disorders v0.10 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.10 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.10 NTRK2 Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
Severe Paediatric Disorders v0.10 NTRK1 Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
Severe Paediatric Disorders v0.10 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.10 NSUN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 5, 611091 for gene: NSUN2
Severe Paediatric Disorders v0.10 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.10 NR0B1 Louise Daugherty Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018; Adrenal hypoplasia, congenital, 300200 for gene: NR0B1
Severe Paediatric Disorders v0.10 NPR2 Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
Severe Paediatric Disorders v0.10 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.10 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.10 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.10 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.10 NOP10 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
Severe Paediatric Disorders v0.10 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.10 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.10 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.10 NKX3-2 Louise Daugherty Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 for gene: NKX3-2
Severe Paediatric Disorders v0.10 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.10 NIPAL4 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
Severe Paediatric Disorders v0.10 NHP2 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
Severe Paediatric Disorders v0.10 NHLRC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 for gene: NHLRC1
Severe Paediatric Disorders v0.10 NHEJ1 Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
Severe Paediatric Disorders v0.10 NFKBIA Louise Daugherty Added phenotypes Ectodermal dysplasia and immunodeficiency 2, 612132 for gene: NFKBIA
Severe Paediatric Disorders v0.10 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.10 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.10 NEU1 Louise Daugherty Added phenotypes Sialidosis, type I, 256550; Sialidosis, type II, 256550 for gene: NEU1
Severe Paediatric Disorders v0.10 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.10 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.10 NECTIN4 Louise Daugherty Added phenotypes Ectodermal dysplasia-syndactyly syndrome 1, 613573 for gene: NECTIN4
Severe Paediatric Disorders v0.10 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.10 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.10 NDST1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 46, 616116 for gene: NDST1
Severe Paediatric Disorders v0.10 NAXE Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
Severe Paediatric Disorders v0.10 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.10 NANS Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 for gene: NANS
Severe Paediatric Disorders v0.10 NAGLU Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
Severe Paediatric Disorders v0.10 MYRF Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
Severe Paediatric Disorders v0.10 MYO7A Louise Daugherty Added phenotypes Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317; Deafness, autosomal recessive 2, 600060 for gene: MYO7A
Severe Paediatric Disorders v0.10 MYO6 Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
Severe Paediatric Disorders v0.10 MYO5B Louise Daugherty Added phenotypes Microvillus inclusion disease, 251850 for gene: MYO5B
Severe Paediatric Disorders v0.10 MYO3A Louise Daugherty Added phenotypes Deafness, autosomal recessive 30, 607101 for gene: MYO3A
Severe Paediatric Disorders v0.10 MYO1E Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 6, 614131 for gene: MYO1E
Severe Paediatric Disorders v0.10 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.10 MYO15A Louise Daugherty Added phenotypes Deafness, autosomal recessive 3, 600316 for gene: MYO15A
Severe Paediatric Disorders v0.10 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.10 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.10 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.10 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.10 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.10 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.10 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.10 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.10 MT-TV Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
Severe Paediatric Disorders v0.10 MT-TK Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
Severe Paediatric Disorders v0.10 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.10 MT-TE Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
Severe Paediatric Disorders v0.10 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.10 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.10 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.10 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.10 MT-CO3 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3
Severe Paediatric Disorders v0.10 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.10 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.10 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.10 MSX2 Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
Severe Paediatric Disorders v0.10 MSX1 Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
Severe Paediatric Disorders v0.10 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.10 MSH6 Louise Daugherty Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6
Severe Paediatric Disorders v0.10 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.10 MRE11 Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
Severe Paediatric Disorders v0.10 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.10 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.10 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.10 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
Severe Paediatric Disorders v0.10 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.10 MMAA Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
Severe Paediatric Disorders v0.10 MKKS Louise Daugherty Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Severe Paediatric Disorders v0.10 MICU1 Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
Severe Paediatric Disorders v0.10 MFSD8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
Severe Paediatric Disorders v0.10 MFSD2A Louise Daugherty Added phenotypes Microcephaly 15, primary, autosomal recessive, 616486 for gene: MFSD2A
Severe Paediatric Disorders v0.10 MFF Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
Severe Paediatric Disorders v0.10 METTL23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 44, 615942 for gene: METTL23
Severe Paediatric Disorders v0.10 MESP2 Louise Daugherty Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 for gene: MESP2
Severe Paediatric Disorders v0.10 MED23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 18, 614249 for gene: MED23
Severe Paediatric Disorders v0.10 MED17 Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
Severe Paediatric Disorders v0.10 MED13L Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
Severe Paediatric Disorders v0.10 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.10 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.10 MCOLN1 Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Severe Paediatric Disorders v0.10 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.10 MC2R Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
Severe Paediatric Disorders v0.10 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.10 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.10 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.10 MATN3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 5, 607078; ?Spondyloepimetaphyseal dysplasia, 608728 for gene: MATN3
Severe Paediatric Disorders v0.10 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.10 MAST1 Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
Severe Paediatric Disorders v0.10 MARVELD2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 49, 610153 for gene: MARVELD2
Severe Paediatric Disorders v0.10 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.10 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.10 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.10 MAP3K7 Louise Daugherty Added phenotypes Cardiospondylocarpofacial syndrome, 157800; Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7
Severe Paediatric Disorders v0.10 MANBA Louise Daugherty Added phenotypes Mannosidosis, beta, 248510 for gene: MANBA
Severe Paediatric Disorders v0.10 MAN2B1 Louise Daugherty Added phenotypes Mannosidosis, alpha-, types I and II, 248500 for gene: MAN2B1
Severe Paediatric Disorders v0.10 MAN1B1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 15, 614202 for gene: MAN1B1
Severe Paediatric Disorders v0.10 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.10 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.10 MAB21L2 Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
Severe Paediatric Disorders v0.10 LTBP4 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IC, 613177 for gene: LTBP4
Severe Paediatric Disorders v0.10 LTBP3 Louise Daugherty Added phenotypes Geleophysic dysplasia 3, 617809; Dental anomalies and short stature, 601216 for gene: LTBP3
Severe Paediatric Disorders v0.10 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.10 LRTOMT Louise Daugherty Added phenotypes Deafness, autosomal recessive 63, 611451 for gene: LRTOMT
Severe Paediatric Disorders v0.10 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.10 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.10 LRP4 Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
Severe Paediatric Disorders v0.10 LPIN1 Louise Daugherty Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Severe Paediatric Disorders v0.10 LOXHD1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 77, 613079 for gene: LOXHD1
Severe Paediatric Disorders v0.10 LNPK Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
Severe Paediatric Disorders v0.10 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.10 LIPT2 Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Severe Paediatric Disorders v0.10 LINS1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 27, 614340 for gene: LINS1
Severe Paediatric Disorders v0.10 LIAS Louise Daugherty Added phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 for gene: LIAS
Severe Paediatric Disorders v0.10 LHFPL5 Louise Daugherty Added phenotypes Deafness, autosomal recessive 67, 610265 for gene: LHFPL5
Severe Paediatric Disorders v0.10 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.10 LFNG Louise Daugherty Added phenotypes Spondylocostal dysostosis 3, autosomal recessive, 609813 for gene: LFNG
Severe Paediatric Disorders v0.10 LEPR Louise Daugherty Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR
Severe Paediatric Disorders v0.10 LEMD3 Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
Severe Paediatric Disorders v0.10 LBR Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
Severe Paediatric Disorders v0.10 LARS2 Louise Daugherty Added phenotypes ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 for gene: LARS2
Severe Paediatric Disorders v0.10 LAMC2 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMC2
Severe Paediatric Disorders v0.10 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.10 LAMA3 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 for gene: LAMA3
Severe Paediatric Disorders v0.10 LAMA2 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Severe Paediatric Disorders v0.10 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.10 KRT5 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5
Severe Paediatric Disorders v0.10 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.10 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.10 KNL1 Louise Daugherty Added phenotypes Microcephaly 4, primary, autosomal recessive, 604321 for gene: KNL1
Severe Paediatric Disorders v0.10 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.10 KIT Louise Daugherty Added phenotypes Piebaldism, 172800; Mastocytosis, cutaneous, 154800 for gene: KIT
Severe Paediatric Disorders v0.10 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.10 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.10 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.10 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.10 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.10 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.10 KIF14 Louise Daugherty Added phenotypes Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 for gene: KIF14
Severe Paediatric Disorders v0.10 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.10 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.10 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.10 KDM5B Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 65, 618109 for gene: KDM5B
Severe Paediatric Disorders v0.10 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.10 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.10 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.10 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.10 KCNC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 7, 616187 for gene: KCNC1
Severe Paediatric Disorders v0.10 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.10 JUP Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
Severe Paediatric Disorders v0.10 JAK3 Louise Daugherty Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 for gene: JAK3
Severe Paediatric Disorders v0.10 JAGN1 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 6, autosomal recessive, 616022 for gene: JAGN1
Severe Paediatric Disorders v0.10 ITPR1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1
Severe Paediatric Disorders v0.10 ITPA Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
Severe Paediatric Disorders v0.10 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.10 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.10 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.10 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.10 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.10 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.10 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
Severe Paediatric Disorders v0.10 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.10 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.10 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.10 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
Severe Paediatric Disorders v0.10 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.10 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.10 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.10 INPP5E Louise Daugherty Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E
Severe Paediatric Disorders v0.10 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.10 IMPAD1 Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
Severe Paediatric Disorders v0.10 ILDR1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 42, 609646 for gene: ILDR1
Severe Paediatric Disorders v0.10 IL7R Louise Daugherty Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 for gene: IL7R
Severe Paediatric Disorders v0.10 IL36RN Louise Daugherty Added phenotypes Psoriasis 14, pustular, 614204 for gene: IL36RN
Severe Paediatric Disorders v0.10 IL17RC Louise Daugherty Added phenotypes Candidiasis, familial, 9, 616445 for gene: IL17RC
Severe Paediatric Disorders v0.10 IL12B Louise Daugherty Added phenotypes Immunodeficiency 29, mycobacteriosis, 614890 for gene: IL12B
Severe Paediatric Disorders v0.10 IL11RA Louise Daugherty Added phenotypes Craniosynostosis and dental anomalies, 614188 for gene: IL11RA
Severe Paediatric Disorders v0.10 IL10RB Louise Daugherty Added phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 for gene: IL10RB
Severe Paediatric Disorders v0.10 IL10RA Louise Daugherty Added phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 for gene: IL10RA
Severe Paediatric Disorders v0.10 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
Severe Paediatric Disorders v0.10 IHH Louise Daugherty Added phenotypes Acrocapitofemoral dysplasia, 607778; Brachydactyly, type A1, 112500 for gene: IHH
Severe Paediatric Disorders v0.10 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.10 IGF1R Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
Severe Paediatric Disorders v0.10 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.10 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.10 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.10 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.10 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.10 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.10 IFT122 Louise Daugherty Added phenotypes Cranioectodermal dysplasia 1, 218330 for gene: IFT122
Severe Paediatric Disorders v0.10 IFNGR2 Louise Daugherty Added phenotypes Immunodeficiency 28, mycobacteriosis, 614889 for gene: IFNGR2
Severe Paediatric Disorders v0.10 IFNGR1 Louise Daugherty Added phenotypes Immunodeficiency 27A, mycobacteriosis, AR, 209950; Immunodeficiency 27B, mycobacteriosis, AD, 615978 for gene: IFNGR1
Severe Paediatric Disorders v0.10 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.10 IFIH1 Louise Daugherty Added phenotypes Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846 for gene: IFIH1
Severe Paediatric Disorders v0.10 IDUA Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA
Severe Paediatric Disorders v0.10 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.10 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.10 IARS2 Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
Severe Paediatric Disorders v0.10 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.10 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.10 HSPG2 Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Severe Paediatric Disorders v0.10 HSD3B7 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
Severe Paediatric Disorders v0.10 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.10 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.10 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.10 HPCA Louise Daugherty Added phenotypes Dystonia 2, torsion, autosomal recessive, 224500 for gene: HPCA
Severe Paediatric Disorders v0.10 HOXC13 Louise Daugherty Added phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 for gene: HOXC13
Severe Paediatric Disorders v0.10 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.10 HOXA1 Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
Severe Paediatric Disorders v0.10 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.10 HINT1 Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
Severe Paediatric Disorders v0.10 HGSNAT Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis pigmentosa 73, 616544 for gene: HGSNAT
Severe Paediatric Disorders v0.10 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.10 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.10 HESX1 Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
Severe Paediatric Disorders v0.10 HES7 Louise Daugherty Added phenotypes Spondylocostal dysostosis 4, autosomal recessive, 613686 for gene: HES7
Severe Paediatric Disorders v0.10 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.10 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.10 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.10 HAX1 Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 for gene: HAX1
Severe Paediatric Disorders v0.10 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.10 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.10 GUSB Louise Daugherty Added phenotypes Mucopolysaccharidosis VII, 253220 for gene: GUSB
Severe Paediatric Disorders v0.10 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.10 GSC Louise Daugherty Added phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 for gene: GSC
Severe Paediatric Disorders v0.10 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.10 GRM6 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6
Severe Paediatric Disorders v0.10 GRM1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831 for gene: GRM1
Severe Paediatric Disorders v0.10 GRIN1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
Severe Paediatric Disorders v0.10 GRIK2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive, 6, 611092 for gene: GRIK2
Severe Paediatric Disorders v0.10 GRID2 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Severe Paediatric Disorders v0.10 GPT2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 49, 616281 for gene: GPT2
Severe Paediatric Disorders v0.10 GPR179 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179
Severe Paediatric Disorders v0.10 GPD1 Louise Daugherty Added phenotypes Hypertriglyceridemia, transient infantile, 614480 for gene: GPD1
Severe Paediatric Disorders v0.10 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.10 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.10 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.10 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
Severe Paediatric Disorders v0.10 GOSR2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 6, 614018 for gene: GOSR2
Severe Paediatric Disorders v0.10 GNS Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIID, 252940 for gene: GNS
Severe Paediatric Disorders v0.10 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.10 GNPTAB Louise Daugherty Added phenotypes Mucolipidosis III alpha/beta, 252600; Mucolipidosis II alpha/beta, 252500 for gene: GNPTAB
Severe Paediatric Disorders v0.10 GNPAT Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 2, 222765 for gene: GNPAT
Severe Paediatric Disorders v0.10 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.10 GNAS Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
Severe Paediatric Disorders v0.10 GMPPA Louise Daugherty Added phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 for gene: GMPPA
Severe Paediatric Disorders v0.10 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.10 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.10 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.10 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.10 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.10 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.10 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.10 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.10 GIPC3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 15, 601869 for gene: GIPC3
Severe Paediatric Disorders v0.10 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.10 GFER Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
Severe Paediatric Disorders v0.10 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.10 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.10 GDAP1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
Severe Paediatric Disorders v0.10 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.10 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.10 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.10 GATA3 Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
Severe Paediatric Disorders v0.10 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.10 GALNT3 Louise Daugherty Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 for gene: GALNT3
Severe Paediatric Disorders v0.10 GALNS Louise Daugherty Added phenotypes Mucopolysaccharidosis IVA, 253000 for gene: GALNS
Severe Paediatric Disorders v0.10 G6PC3 Louise Daugherty Added phenotypes Dursun syndrome, 612541; Neutropenia, severe congenital 4, autosomal recessive, 612541 for gene: G6PC3
Severe Paediatric Disorders v0.10 FZD2 Louise Daugherty Added phenotypes Omodysplasia 2, 164745 for gene: FZD2
Severe Paediatric Disorders v0.10 FYCO1 Louise Daugherty Added phenotypes Cataract 18, autosomal recessive, 610019 for gene: FYCO1
Severe Paediatric Disorders v0.10 FUCA1 Louise Daugherty Added phenotypes Fucosidosis, 230000 for gene: FUCA1
Severe Paediatric Disorders v0.10 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.10 FOXF1 Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
Severe Paediatric Disorders v0.10 FOXE3 Louise Daugherty Added phenotypes Cataract 34, multiple types, 612968; Anterior segment dysgenesis 2, multiple subtypes, 610256 for gene: FOXE3
Severe Paediatric Disorders v0.10 FOXC2 Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
Severe Paediatric Disorders v0.10 FOXC1 Louise Daugherty Added phenotypes Axenfeld-Rieger syndrome, type 3, 602482; Anterior segment dysgenesis 3, multiple subtypes, 601631 for gene: FOXC1
Severe Paediatric Disorders v0.10 FN1 Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
Severe Paediatric Disorders v0.10 FMN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 47, 616193 for gene: FMN2
Severe Paediatric Disorders v0.10 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.10 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.10 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.10 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.10 FH Louise Daugherty Added phenotypes Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 for gene: FH
Severe Paediatric Disorders v0.10 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.10 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.10 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.10 FGF3 Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
Severe Paediatric Disorders v0.10 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.10 FGF16 Louise Daugherty Added phenotypes Metacarpal 4-5 fusion, 309630 for gene: FGF16
Severe Paediatric Disorders v0.10 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.10 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
Severe Paediatric Disorders v0.10 FERMT3 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, type III, 612840 for gene: FERMT3
Severe Paediatric Disorders v0.10 FDX2 Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
Severe Paediatric Disorders v0.10 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.10 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.10 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.10 FAT4 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4
Severe Paediatric Disorders v0.10 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.10 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.10 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.10 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.10 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.10 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.10 F11 Louise Daugherty Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11
Severe Paediatric Disorders v0.10 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.10 EXT2 Louise Daugherty Added phenotypes Exostoses, multiple, type 2, 133701; Seizures, scoliosis, and macrocephaly syndrome, 616682 for gene: EXT2
Severe Paediatric Disorders v0.10 EXOSC3 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 for gene: EXOSC3
Severe Paediatric Disorders v0.10 EVC2 Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2
Severe Paediatric Disorders v0.10 EVC Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; ?Weyers acrofacial dysostosis, 193530 for gene: EVC
Severe Paediatric Disorders v0.10 ESRRB Louise Daugherty Added phenotypes Deafness, autosomal recessive 35, 608565 for gene: ESRRB
Severe Paediatric Disorders v0.10 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.10 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.10 ERCC8 Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8
Severe Paediatric Disorders v0.10 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.10 ERCC3 Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
Severe Paediatric Disorders v0.10 ERCC2 Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
Severe Paediatric Disorders v0.10 EPM2A Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 for gene: EPM2A
Severe Paediatric Disorders v0.10 EPB42 Louise Daugherty Added phenotypes Spherocytosis, type 5, 612690 for gene: EPB42
Severe Paediatric Disorders v0.10 EPB41 Louise Daugherty Added phenotypes Elliptocytosis-1, 611804 for gene: EPB41
Severe Paediatric Disorders v0.10 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.10 ENPP1 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 1, 208000; Cole disease, 615522; Hypophosphatemic rickets, autosomal recessive, 2, 613312 for gene: ENPP1
Severe Paediatric Disorders v0.10 ENG Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 for gene: ENG
Severe Paediatric Disorders v0.10 ELP2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 58, 617270 for gene: ELP2
Severe Paediatric Disorders v0.10 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.10 ELN Louise Daugherty Added phenotypes Cutis laxa, autosomal dominant, 123700; Supravalvar aortic stenosis, 185500 for gene: ELN
Severe Paediatric Disorders v0.10 EIF3F Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 67, 618295 for gene: EIF3F
Severe Paediatric Disorders v0.10 EFTUD2 Louise Daugherty Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 for gene: EFTUD2
Severe Paediatric Disorders v0.10 EFNB1 Louise Daugherty Added phenotypes Craniofrontonasal dysplasia, 304110 for gene: EFNB1
Severe Paediatric Disorders v0.10 EDNRA Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
Severe Paediatric Disorders v0.10 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.10 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.10 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.10 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.10 EBP Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked dominant, 302960; MEND syndrome, 300960 for gene: EBP
Severe Paediatric Disorders v0.10 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.10 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.10 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.10 DYM Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
Severe Paediatric Disorders v0.10 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.10 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.10 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.10 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.10 DOK7 Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
Severe Paediatric Disorders v0.10 DOCK8 Louise Daugherty Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 for gene: DOCK8
Severe Paediatric Disorders v0.10 DNM1L Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
Severe Paediatric Disorders v0.10 DNAJC5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 for gene: DNAJC5
Severe Paediatric Disorders v0.10 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.10 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.10 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.10 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.10 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.10 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.10 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.10 DNA2 Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
Severe Paediatric Disorders v0.10 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.10 DLL3 Louise Daugherty Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 for gene: DLL3
Severe Paediatric Disorders v0.10 DKC1 Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: DKC1
Severe Paediatric Disorders v0.10 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.10 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.10 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.10 DDR2 Louise Daugherty Added phenotypes Warburg-Cinotti syndrome, 618175; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 for gene: DDR2
Severe Paediatric Disorders v0.10 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.10 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.10 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.10 DCC Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
Severe Paediatric Disorders v0.10 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.10 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.10 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.10 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.10 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.10 CYP21A2 Louise Daugherty Added phenotypes Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 for gene: CYP21A2
Severe Paediatric Disorders v0.10 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.10 CYP11B1 Louise Daugherty Added phenotypes Aldosteronism, glucocorticoid-remediable, 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 for gene: CYP11B1
Severe Paediatric Disorders v0.10 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.10 CWF19L1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 for gene: CWF19L1
Severe Paediatric Disorders v0.10 CTSK Louise Daugherty Added phenotypes Pycnodysostosis, 265800 for gene: CTSK
Severe Paediatric Disorders v0.10 CTSF Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 for gene: CTSF
Severe Paediatric Disorders v0.10 CTSD Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD
Severe Paediatric Disorders v0.10 CTSA Louise Daugherty Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Severe Paediatric Disorders v0.10 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.10 CTNNA2 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
Severe Paediatric Disorders v0.10 CSTB Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB
Severe Paediatric Disorders v0.10 CSF3R Louise Daugherty Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R
Severe Paediatric Disorders v0.10 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.10 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.10 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.10 CRB2 Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
Severe Paediatric Disorders v0.10 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.10 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.10 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.10 COX6A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
Severe Paediatric Disorders v0.10 COMP Louise Daugherty Added phenotypes Pseudoachondroplasia, 177170; Epiphyseal dysplasia, multiple, 1, 132400 for gene: COMP
Severe Paediatric Disorders v0.10 COL9A3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
Severe Paediatric Disorders v0.10 COL9A2 Louise Daugherty Added phenotypes ?Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2, 600204 for gene: COL9A2
Severe Paediatric Disorders v0.10 COL9A1 Louise Daugherty Added phenotypes Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135 for gene: COL9A1
Severe Paediatric Disorders v0.10 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
Severe Paediatric Disorders v0.10 COL6A2 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
Severe Paediatric Disorders v0.10 COL5A2 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 2, 130010 for gene: COL5A2
Severe Paediatric Disorders v0.10 COL5A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 1, 130000 for gene: COL5A1
Severe Paediatric Disorders v0.10 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.10 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.10 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.10 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.10 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.10 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.10 COL17A1 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
Severe Paediatric Disorders v0.10 COL11A2 Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2
Severe Paediatric Disorders v0.10 COL11A1 Louise Daugherty Added phenotypes ?Deafness, autosomal dominant 37, 618533; Marshall syndrome, 154780; Stickler syndrome, type II, 604841; Fibrochondrogenesis 1, 228520 for gene: COL11A1
Severe Paediatric Disorders v0.10 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.10 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.10 COA7 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
Severe Paediatric Disorders v0.10 CNTNAP2 Louise Daugherty Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2
Severe Paediatric Disorders v0.10 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.10 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.10 CLP1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 10, 615803 for gene: CLP1
Severe Paediatric Disorders v0.10 CLN8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
Severe Paediatric Disorders v0.10 CLN6 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6
Severe Paediatric Disorders v0.10 CLN5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5
Severe Paediatric Disorders v0.10 CLN3 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3
Severe Paediatric Disorders v0.10 CLDN14 Louise Daugherty Added phenotypes Deafness, autosomal recessive 29, 614035 for gene: CLDN14
Severe Paediatric Disorders v0.10 CLDN1 Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
Severe Paediatric Disorders v0.10 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.10 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.10 CIT Louise Daugherty Added phenotypes Microcephaly 17, primary, autosomal recessive, 617090 for gene: CIT
Severe Paediatric Disorders v0.10 ICK Louise Daugherty Added phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK
Severe Paediatric Disorders v0.10 CIB2 Louise Daugherty Added phenotypes Usher syndrome, type IJ, 614869; Deafness, autosomal recessive 48, 609439 for gene: CIB2
Severe Paediatric Disorders v0.10 CHST3 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
Severe Paediatric Disorders v0.10 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.10 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.10 CHD4 Louise Daugherty Added phenotypes Sifrim-Hitz-Weiss syndrome, 617159 for gene: CHD4
Severe Paediatric Disorders v0.10 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.10 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.10 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.10 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.10 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.10 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.10 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.10 CEP152 Louise Daugherty Added phenotypes Microcephaly 9, primary, autosomal recessive, 614852; Seckel syndrome 5, 613823 for gene: CEP152
Severe Paediatric Disorders v0.10 CEP135 Louise Daugherty Added phenotypes Microcephaly 8, primary, autosomal recessive, 614673 for gene: CEP135
Severe Paediatric Disorders v0.10 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.10 CENPJ Louise Daugherty Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393; ?Seckel syndrome 4, 613676 for gene: CENPJ
Severe Paediatric Disorders v0.10 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.10 CDK5RAP2 Louise Daugherty Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2
Severe Paediatric Disorders v0.10 CDK10 Louise Daugherty Added phenotypes Al Kaissi syndrome, 617694 for gene: CDK10
Severe Paediatric Disorders v0.10 CDH3 Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
Severe Paediatric Disorders v0.10 CDH23 Louise Daugherty Added phenotypes Usher syndrome, type 1D, 601067; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 12, 601386 for gene: CDH23
Severe Paediatric Disorders v0.10 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.10 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.10 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.10 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.10 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.10 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.10 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.10 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.10 CCBE1 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 for gene: CCBE1
Severe Paediatric Disorders v0.10 CC2D1A Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 3, 608443 for gene: CC2D1A
Severe Paediatric Disorders v0.10 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.10 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.10 CASK Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
Severe Paediatric Disorders v0.10 CARD9 Louise Daugherty Added phenotypes Candidiasis, familial, 2, autosomal recessive, 212050 for gene: CARD9
Severe Paediatric Disorders v0.10 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.10 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.10 CAPN3 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3
Severe Paediatric Disorders v0.10 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.10 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.10 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.10 CACNA1S Louise Daugherty Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Severe Paediatric Disorders v0.10 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.10 CACNA1A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
Severe Paediatric Disorders v0.10 CA2 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
Severe Paediatric Disorders v0.10 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.10 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.10 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.10 C12orf4 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 66, 618221 for gene: C12orf4
Severe Paediatric Disorders v0.10 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.10 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.10 BMPR1B Louise Daugherty Added phenotypes Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A2, 112600; Brachydactyly, type A1, D, 616849 for gene: BMPR1B
Severe Paediatric Disorders v0.10 BMPR1A Louise Daugherty Added phenotypes Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Polyposis, juvenile intestinal, 174900 for gene: BMPR1A
Severe Paediatric Disorders v0.10 BMPER Louise Daugherty Added phenotypes Diaphanospondylodysostosis, 608022 for gene: BMPER
Severe Paediatric Disorders v0.10 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.10 BGN Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN
Severe Paediatric Disorders v0.10 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.10 B3GALT6 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
Severe Paediatric Disorders v0.10 B2M Louise Daugherty Added phenotypes ?Amyloidosis, familial visceral; Immunodeficiency 43, 241600 for gene: B2M
Severe Paediatric Disorders v0.10 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.10 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.10 ATP6V1B1 Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
Severe Paediatric Disorders v0.10 ATP6V1A Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
Severe Paediatric Disorders v0.10 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.10 ATP1A2 Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481 for gene: ATP1A2
Severe Paediatric Disorders v0.10 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.10 ATN1 Louise Daugherty Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1
Severe Paediatric Disorders v0.10 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.10 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.10 ASPM Louise Daugherty Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 for gene: ASPM
Severe Paediatric Disorders v0.10 ASAH1 Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
Severe Paediatric Disorders v0.10 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.10 ARSB Louise Daugherty Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 for gene: ARSB
Severe Paediatric Disorders v0.10 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.10 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.10 ARID2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 6, 617808 for gene: ARID2
Severe Paediatric Disorders v0.10 ARID1B Louise Daugherty Added phenotypes Coffin-Siris syndrome 1, 135900 for gene: ARID1B
Severe Paediatric Disorders v0.10 ARID1A Louise Daugherty Added phenotypes Coffin-Siris syndrome 2, 614607 for gene: ARID1A
Severe Paediatric Disorders v0.10 AR Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
Severe Paediatric Disorders v0.10 APOA1 Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
Severe Paediatric Disorders v0.10 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.10 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.10 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.10 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.10 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.10 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.10 ANTXR2 Louise Daugherty Added phenotypes Hyaline fibromatosis syndrome, 228600 for gene: ANTXR2
Severe Paediatric Disorders v0.10 ANO5 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
Severe Paediatric Disorders v0.10 ANO10 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 for gene: ANO10
Severe Paediatric Disorders v0.10 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.10 ANKH Louise Daugherty Added phenotypes Craniometaphyseal dysplasia, 123000; Chondrocalcinosis 2, 118600 for gene: ANKH
Severe Paediatric Disorders v0.10 ANK1 Louise Daugherty Added phenotypes Spherocytosis, type 1, 182900 for gene: ANK1
Severe Paediatric Disorders v0.10 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.10 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.10 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
Severe Paediatric Disorders v0.10 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.10 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.10 ALX4 Louise Daugherty Added phenotypes Parietal foramina 2, 609597; Frontonasal dysplasia 2, 613451 for gene: ALX4
Severe Paediatric Disorders v0.10 ALX3 Louise Daugherty Added phenotypes Frontonasal dysplasia 1, 136760 for gene: ALX3
Severe Paediatric Disorders v0.10 ALX1 Louise Daugherty Added phenotypes ?Frontonasal dysplasia 3, 613456 for gene: ALX1
Severe Paediatric Disorders v0.10 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.10 ALPL Louise Daugherty Added phenotypes Hypophosphatasia, childhood, 241510; Hypophosphatasia, adult, 146300; Hypophosphatasia, infantile, 241500; Odontohypophosphatasia, 146300 for gene: ALPL
Severe Paediatric Disorders v0.10 ALOXE3 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
Severe Paediatric Disorders v0.10 ALOX12B Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
Severe Paediatric Disorders v0.10 ALKBH8 Louise Daugherty Added phenotypes Intellectual developmental disorder, autosomal recessive 71, 618504 for gene: ALKBH8
Severe Paediatric Disorders v0.10 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.10 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.10 AKR1D1 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
Severe Paediatric Disorders v0.10 AK2 Louise Daugherty Added phenotypes Reticular dysgenesis, 267500 for gene: AK2
Severe Paediatric Disorders v0.10 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.10 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.10 AGTR1 Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGTR1
Severe Paediatric Disorders v0.10 AGT Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGT
Severe Paediatric Disorders v0.10 AGPS Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 for gene: AGPS
Severe Paediatric Disorders v0.10 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.10 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.10 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.10 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.10 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.10 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.10 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.10 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.10 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.10 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.10 ACVRL1 Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 for gene: ACVRL1
Severe Paediatric Disorders v0.10 ACVR1 Louise Daugherty Added phenotypes Fibrodysplasia ossificans progressiva, 135100 for gene: ACVR1
Severe Paediatric Disorders v0.10 ACTN4 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 1, 603278 for gene: ACTN4
Severe Paediatric Disorders v0.10 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.10 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.10 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.10 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.10 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.10 ABCG8 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG8
Severe Paediatric Disorders v0.10 ABCG5 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG5
Severe Paediatric Disorders v0.10 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.10 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.10 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Severe Paediatric Disorders v0.10 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.10 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.10 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.10 AASS Louise Daugherty Added phenotypes Hyperlysinemia, 238700; Saccharopinuria, 268700 for gene: AASS
Severe Paediatric Disorders v0.10 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.10 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.9 VPS35 Louise Daugherty Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.9 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.9 NRXN3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
Severe Paediatric Disorders v0.9 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.9 UNC119 Louise Daugherty Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
Severe Paediatric Disorders v0.9 SNAP25 Louise Daugherty Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
Severe Paediatric Disorders v0.9 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.9 SIGMAR1 Louise Daugherty Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
Severe Paediatric Disorders v0.9 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.9 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.9 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.9 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.9 PEX11B Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Severe Paediatric Disorders v0.9 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.9 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.9 IL17F Louise Daugherty Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
Severe Paediatric Disorders v0.9 HYAL1 Louise Daugherty Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
Severe Paediatric Disorders v0.9 FRMD4A Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
Severe Paediatric Disorders v0.9 APOL1 Louise Daugherty Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
Severe Paediatric Disorders v0.9 ACD Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
Severe Paediatric Disorders v0.9 ZSWIM6 Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
Severe Paediatric Disorders v0.9 ZMPSTE24 Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
Severe Paediatric Disorders v0.9 ZIC1 Louise Daugherty Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
Severe Paediatric Disorders v0.9 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.9 ZFP57 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Severe Paediatric Disorders v0.9 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Severe Paediatric Disorders v0.9 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.9 WWOX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
Severe Paediatric Disorders v0.9 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.9 WRAP53 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 for gene: WRAP53
Severe Paediatric Disorders v0.9 WNT10B Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
Severe Paediatric Disorders v0.9 WNT10A Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
Severe Paediatric Disorders v0.9 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.9 WDR62 Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
Severe Paediatric Disorders v0.9 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.9 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.9 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 WARS2 Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Severe Paediatric Disorders v0.9 VRK1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 for gene: VRK1
Severe Paediatric Disorders v0.9 VPS53 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 for gene: VPS53
Severe Paediatric Disorders v0.9 VPS45 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 for gene: VPS45
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VPS13D Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D
Severe Paediatric Disorders v0.9 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.9 VMA21 Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 VKORC1 Louise Daugherty Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700 for gene: VKORC1
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.9 VDR Louise Daugherty Added phenotypes Rickets, vitamin D-resistant, type IIA, 277440 for gene: VDR
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 UVSSA Louise Daugherty Added phenotypes UV-sensitive syndrome 3, 614640 for gene: UVSSA
Severe Paediatric Disorders v0.9 USH1C Louise Daugherty Added phenotypes Usher syndrome, type 1C, 276904; Deafness, autosomal recessive 18A, 602092 for gene: USH1C
Severe Paediatric Disorders v0.9 UNC13D Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 for gene: UNC13D
Severe Paediatric Disorders v0.9 UGT1A1 Louise Daugherty Added phenotypes Crigler-Najjar syndrome, type I, 218800; Crigler-Najjar syndrome, type II, 606785; Hyperbilirubinemia, familial transient neonatal, 237900 for gene: UGT1A1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UBA5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
Severe Paediatric Disorders v0.9 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.9 TWNK Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
Severe Paediatric Disorders v0.9 TWIST2 Louise Daugherty Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2
Severe Paediatric Disorders v0.9 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.9 TUSC3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 7, 611093 for gene: TUSC3
Severe Paediatric Disorders v0.9 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.9 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.9 TUBG1 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
Severe Paediatric Disorders v0.9 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.9 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.9 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.9 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TUBA8 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
Severe Paediatric Disorders v0.9 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 TTI2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 39, 615541 for gene: TTI2
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TSEN54 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 for gene: TSEN54
Severe Paediatric Disorders v0.9 TSEN2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 for gene: TSEN2
Severe Paediatric Disorders v0.9 TSC2 Louise Daugherty Added phenotypes Tuberous sclerosis-2, 613254 for gene: TSC2
Severe Paediatric Disorders v0.9 TSC1 Louise Daugherty Added phenotypes Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690 for gene: TSC1
Severe Paediatric Disorders v0.9 TRPV6 Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.9 TRPM1 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Severe Paediatric Disorders v0.9 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.9 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.9 TRMU Louise Daugherty Added phenotypes Liver failure, transient infantile, 613070 for gene: TRMU
Severe Paediatric Disorders v0.9 TRMT1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 68, 618302 for gene: TRMT1
Severe Paediatric Disorders v0.9 TRIP11 Louise Daugherty Added phenotypes Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600 for gene: TRIP11
Severe Paediatric Disorders v0.9 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.9 TRIM32 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Severe Paediatric Disorders v0.9 TREX1 Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
Severe Paediatric Disorders v0.9 TREM2 Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Severe Paediatric Disorders v0.9 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.9 TRAPPC2 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Severe Paediatric Disorders v0.9 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TRAPPC11 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 for gene: TRAPPC11
Severe Paediatric Disorders v0.9 TPP1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1
Severe Paediatric Disorders v0.9 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.9 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.9 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 TOR1A Louise Daugherty Added phenotypes Dystonia-1, torsion, 128100 for gene: TOR1A
Severe Paediatric Disorders v0.9 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.9 TOE1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 for gene: TOE1
Severe Paediatric Disorders v0.9 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TNFSF11 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 2, 259710 for gene: TNFSF11
Severe Paediatric Disorders v0.9 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.9 TMPRSS3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 8/10, 601072 for gene: TMPRSS3
Severe Paediatric Disorders v0.9 TMIE Louise Daugherty Added phenotypes Deafness, autosomal recessive 6, 600971 for gene: TMIE
Severe Paediatric Disorders v0.9 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.9 TMEM43 Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
Severe Paediatric Disorders v0.9 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.9 TMC8 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Severe Paediatric Disorders v0.9 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.9 TMC1 Louise Daugherty Added phenotypes Deafness, autosomal dominant 36, 606705; Deafness, autosomal recessive 7, 600974 for gene: TMC1
Severe Paediatric Disorders v0.9 TK2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
Severe Paediatric Disorders v0.9 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.9 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.9 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.9 THAP1 Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
Severe Paediatric Disorders v0.9 TH Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
Severe Paediatric Disorders v0.9 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.9 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.9 TERC Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC
Severe Paediatric Disorders v0.9 TECTA Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.9 TCIRG1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 for gene: TCIRG1
Severe Paediatric Disorders v0.9 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.9 TCAP Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
Severe Paediatric Disorders v0.9 TBX6 Louise Daugherty Added phenotypes Spondylocostal dysostosis 5, 122600 for gene: TBX6
Severe Paediatric Disorders v0.9 TBX4 Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TBX15 Louise Daugherty Added phenotypes Cousin syndrome, 260660 for gene: TBX15
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.9 TBCD Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
Severe Paediatric Disorders v0.9 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.9 TBC1D23 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 for gene: TBC1D23
Severe Paediatric Disorders v0.9 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 TAPT1 Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
Severe Paediatric Disorders v0.9 TANGO2 Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
Severe Paediatric Disorders v0.9 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.9 STXBP2 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2
Severe Paediatric Disorders v0.9 STX11 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 for gene: STX11
Severe Paediatric Disorders v0.9 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 STRC Louise Daugherty Added phenotypes Deafness, autosomal recessive 16, 603720 for gene: STRC
Severe Paediatric Disorders v0.9 STIL Louise Daugherty Added phenotypes Microcephaly 7, primary, autosomal recessive, 612703 for gene: STIL
Severe Paediatric Disorders v0.9 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.9 STAT1 Louise Daugherty Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1
Severe Paediatric Disorders v0.9 STAR Louise Daugherty Added phenotypes Lipoid adrenal hyperplasia, 201710 for gene: STAR
Severe Paediatric Disorders v0.9 ST3GAL5 Louise Daugherty Added phenotypes Salt and pepper developmental regression syndrome, 609056 for gene: ST3GAL5
Severe Paediatric Disorders v0.9 ST3GAL3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
Severe Paediatric Disorders v0.9 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.9 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.9 SPTA1 Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1
Severe Paediatric Disorders v0.9 SPR Louise Daugherty Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR
Severe Paediatric Disorders v0.9 SPPL2A Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
Severe Paediatric Disorders v0.9 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.9 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.9 SOX9 Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
Severe Paediatric Disorders v0.9 SOX4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 10, 618506 for gene: SOX4
Severe Paediatric Disorders v0.9 SOX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
Severe Paediatric Disorders v0.9 SOX17 Louise Daugherty Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Severe Paediatric Disorders v0.9 SOX11 Louise Daugherty Added phenotypes Coffin-Siris syndrome 9, 615866 for gene: SOX11
Severe Paediatric Disorders v0.9 SOST Louise Daugherty Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; Van Buchem disease, 239100 for gene: SOST
Severe Paediatric Disorders v0.9 SNX14 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
Severe Paediatric Disorders v0.9 SNX10 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 8, 615085 for gene: SNX10
Severe Paediatric Disorders v0.9 SNAP29 Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
Severe Paediatric Disorders v0.9 SMARCE1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 5, 616938 for gene: SMARCE1
Severe Paediatric Disorders v0.9 SMARCC2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 8, 618362 for gene: SMARCC2
Severe Paediatric Disorders v0.9 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.9 SMARCAL1 Louise Daugherty Added phenotypes Schimke immunoosseous dysplasia, 242900 for gene: SMARCAL1
Severe Paediatric Disorders v0.9 SMARCA4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 4, 614609 for gene: SMARCA4
Severe Paediatric Disorders v0.9 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.9 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.9 SLC7A7 Louise Daugherty Added phenotypes Lysinuric protein intolerance, 222700 for gene: SLC7A7
Severe Paediatric Disorders v0.9 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.9 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.9 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
Severe Paediatric Disorders v0.9 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.9 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.9 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC35D1 Louise Daugherty Added phenotypes Schneckenbecken dysplasia, 269250 for gene: SLC35D1
Severe Paediatric Disorders v0.9 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.9 SLC2A10 Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10
Severe Paediatric Disorders v0.9 SLC2A1 Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
Severe Paediatric Disorders v0.9 SLC29A3 Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
Severe Paediatric Disorders v0.9 SLC27A4 Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
Severe Paediatric Disorders v0.9 SLC26A4 Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
Severe Paediatric Disorders v0.9 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.9 SLC25A42 Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
Severe Paediatric Disorders v0.9 SLC25A4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
Severe Paediatric Disorders v0.9 SLC25A38 Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.9 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.9 SLC19A2 Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
Severe Paediatric Disorders v0.9 SLC17A5 Louise Daugherty Added phenotypes Sialic acid storage disorder, infantile, 269920; Salla disease, 604369 for gene: SLC17A5
Severe Paediatric Disorders v0.9 SLC12A6 Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
Severe Paediatric Disorders v0.9 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.9 SIX5 Louise Daugherty Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Severe Paediatric Disorders v0.9 SIX3 Louise Daugherty Added phenotypes Holoprosencephaly 2, 157170; Schizencephaly, 269160 for gene: SIX3
Severe Paediatric Disorders v0.9 SIX1 Louise Daugherty Added phenotypes Branchiootic syndrome 3, 608389; Deafness, autosomal dominant 23, 605192 for gene: SIX1
Severe Paediatric Disorders v0.9 SIN3A Louise Daugherty Added phenotypes Witteveen-Kolk syndrome, 613406 for gene: SIN3A
Severe Paediatric Disorders v0.9 SIL1 Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Severe Paediatric Disorders v0.9 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
Severe Paediatric Disorders v0.9 SI Louise Daugherty Added phenotypes Sucrase-isomaltase deficiency, congenital, 222900 for gene: SI
Severe Paediatric Disorders v0.9 SHOX Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
Severe Paediatric Disorders v0.9 SHH Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
Severe Paediatric Disorders v0.9 SGSH Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 for gene: SGSH
Severe Paediatric Disorders v0.9 SGCG Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 for gene: SGCG
Severe Paediatric Disorders v0.9 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.9 SGCB Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 for gene: SGCB
Severe Paediatric Disorders v0.9 SGCA Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 for gene: SGCA
Severe Paediatric Disorders v0.9 SF3B4 Louise Daugherty Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Severe Paediatric Disorders v0.9 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.9 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 SEPSECS Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Severe Paediatric Disorders v0.9 SCNN1B Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
Severe Paediatric Disorders v0.9 SCNN1A Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
Severe Paediatric Disorders v0.9 SCN9A Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
Severe Paediatric Disorders v0.9 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.9 SCARB2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
Severe Paediatric Disorders v0.9 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.9 SARS2 Louise Daugherty Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2
Severe Paediatric Disorders v0.9 SAMD9 Louise Daugherty Added phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455; MIRAGE syndrome, 617053 for gene: SAMD9
Severe Paediatric Disorders v0.9 RYR2 Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
Severe Paediatric Disorders v0.9 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.9 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.9 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.9 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.9 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.9 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.9 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.9 RRM2B Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 RPGR Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
Severe Paediatric Disorders v0.9 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.9 ROR2 Louise Daugherty Added phenotypes Robinow syndrome, autosomal recessive, 268310; Brachydactyly, type B1, 113000 for gene: ROR2
Severe Paediatric Disorders v0.9 ROBO3 Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
Severe Paediatric Disorders v0.9 RNASEH1 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
Severe Paediatric Disorders v0.9 RMRP Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
Severe Paediatric Disorders v0.9 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.9 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.9 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.9 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.9 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.9 QRSL1 Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Severe Paediatric Disorders v0.9 QARS Louise Daugherty Added phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 for gene: QARS
Severe Paediatric Disorders v0.9 PYCR1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438 for gene: PYCR1
Severe Paediatric Disorders v0.9 PUS3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3
Severe Paediatric Disorders v0.9 PUS1 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
Severe Paediatric Disorders v0.9 PTPRC Louise Daugherty Added phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 for gene: PTPRC
Severe Paediatric Disorders v0.9 PTPN11 Louise Daugherty Added phenotypes Metachondromatosis, 156250; Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100 for gene: PTPN11
Severe Paediatric Disorders v0.9 PTH1R Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 PSMD12 Louise Daugherty Added phenotypes Stankiewicz-Isidor syndrome, 617516 for gene: PSMD12
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PRSS12 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 1, 249500 for gene: PRSS12
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.9 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.9 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.9 PRKD1 Louise Daugherty Added phenotypes Congenital heart defects and ectodermal dysplasia, 617364 for gene: PRKD1
Severe Paediatric Disorders v0.9 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.9 PRICKLE1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1B, 612437 for gene: PRICKLE1
Severe Paediatric Disorders v0.9 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.9 PPT1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 for gene: PPT1
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.9 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.9 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 POP1 Louise Daugherty Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
Severe Paediatric Disorders v0.9 POLR1A Louise Daugherty Added phenotypes Acrofacial dysostosis, Cincinnati type, 616462 for gene: POLR1A
Severe Paediatric Disorders v0.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.9 POLD1 Louise Daugherty Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
Severe Paediatric Disorders v0.9 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.9 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.9 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.9 PMP22 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
Severe Paediatric Disorders v0.9 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.9 PLK4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
Severe Paediatric Disorders v0.9 PLEC Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
Severe Paediatric Disorders v0.9 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.9 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.9 PITX3 Louise Daugherty Added phenotypes Cataract 11, multiple types, 610623; Anterior segment dysgenesis 1, multiple subtypes, 107250; Cataract 11, syndromic, autosomal recessive, 610623 for gene: PITX3
Severe Paediatric Disorders v0.9 PITX2 Louise Daugherty Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2
Severe Paediatric Disorders v0.9 PIK3R1 Louise Daugherty Added phenotypes Immunodeficiency 36, 616005; SHORT syndrome, 269880; ?Agammaglobulinemia 7, autosomal recessive, 615214 for gene: PIK3R1
Severe Paediatric Disorders v0.9 PIGW Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
Severe Paediatric Disorders v0.9 PIGV Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
Severe Paediatric Disorders v0.9 PIGU Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
Severe Paediatric Disorders v0.9 PIGO Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
Severe Paediatric Disorders v0.9 PIGH Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
Severe Paediatric Disorders v0.9 PIGG Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG
Severe Paediatric Disorders v0.9 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.9 PHKG2 Louise Daugherty Added phenotypes Glycogen storage disease IXc, 613027; Cirrhosis due to liver phosphorylase kinase deficiency for gene: PHKG2
Severe Paediatric Disorders v0.9 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.9 PHKA1 Louise Daugherty Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Severe Paediatric Disorders v0.9 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.9 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.9 PGAP3 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
Severe Paediatric Disorders v0.9 PGAP2 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
Severe Paediatric Disorders v0.9 PGAP1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 42, 615802 for gene: PGAP1
Severe Paediatric Disorders v0.9 PEX7 Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
Severe Paediatric Disorders v0.9 PEX6 Louise Daugherty Added phenotypes Heimler syndrome 2, 616617; Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Severe Paediatric Disorders v0.9 PEX5 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110; Rhizomelic chondrodysplasia punctata, type 5, 616716; Peroxisome biogenesis disorder 2B, 202370 for gene: PEX5
Severe Paediatric Disorders v0.9 PEX3 Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Severe Paediatric Disorders v0.9 PEX26 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873 for gene: PEX26
Severe Paediatric Disorders v0.9 PEX2 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
Severe Paediatric Disorders v0.9 PEX19 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
Severe Paediatric Disorders v0.9 PEX16 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877 for gene: PEX16
Severe Paediatric Disorders v0.9 PEX14 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
Severe Paediatric Disorders v0.9 PEX13 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
Severe Paediatric Disorders v0.9 PEX12 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
Severe Paediatric Disorders v0.9 PEX10 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Severe Paediatric Disorders v0.9 PEX1 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
Severe Paediatric Disorders v0.9 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PDE4D Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
Severe Paediatric Disorders v0.9 PDE3A Louise Daugherty Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
Severe Paediatric Disorders v0.9 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.9 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.9 PCDH15 Louise Daugherty Added phenotypes Deafness, autosomal recessive 23, 609533; Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067 for gene: PCDH15
Severe Paediatric Disorders v0.9 PCDH12 Louise Daugherty Added phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 for gene: PCDH12
Severe Paediatric Disorders v0.9 PAX9 Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
Severe Paediatric Disorders v0.9 PAX8 Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 PAX2 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 7, 616002; Papillorenal syndrome, 120330 for gene: PAX2
Severe Paediatric Disorders v0.9 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.9 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.9 OTULIN Louise Daugherty Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, 617099 for gene: OTULIN
Severe Paediatric Disorders v0.9 OTOGL Louise Daugherty Added phenotypes Deafness, autosomal recessive 84B, 614944 for gene: OTOGL
Severe Paediatric Disorders v0.9 OTOF Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
Severe Paediatric Disorders v0.9 OTOA Louise Daugherty Added phenotypes Deafness, autosomal recessive 22, 607039 for gene: OTOA
Severe Paediatric Disorders v0.9 OSTM1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 for gene: OSTM1
Severe Paediatric Disorders v0.9 OSMR Louise Daugherty Added phenotypes Amyloidosis, primary localized cutaneous, 1, 105250 for gene: OSMR
Severe Paediatric Disorders v0.9 OPHN1 Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 ODC1 Louise Daugherty Added phenotypes Global developmental delay; Ectodermal dysplasia; Alopecia; Intellectual disability; Macrocephaly for gene: ODC1
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.9 NTRK2 Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
Severe Paediatric Disorders v0.9 NTRK1 Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
Severe Paediatric Disorders v0.9 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.9 NSUN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 5, 611091 for gene: NSUN2
Severe Paediatric Disorders v0.9 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.9 NR0B1 Louise Daugherty Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018; Adrenal hypoplasia, congenital, 300200 for gene: NR0B1
Severe Paediatric Disorders v0.9 NPR2 Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
Severe Paediatric Disorders v0.9 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NOP10 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
Severe Paediatric Disorders v0.9 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.9 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.9 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.9 NKX3-2 Louise Daugherty Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 for gene: NKX3-2
Severe Paediatric Disorders v0.9 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.9 NIPAL4 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
Severe Paediatric Disorders v0.9 NHP2 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
Severe Paediatric Disorders v0.9 NHLRC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 for gene: NHLRC1
Severe Paediatric Disorders v0.9 NHEJ1 Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
Severe Paediatric Disorders v0.9 NFKBIA Louise Daugherty Added phenotypes Ectodermal dysplasia and immunodeficiency 2, 612132 for gene: NFKBIA
Severe Paediatric Disorders v0.9 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 NEU1 Louise Daugherty Added phenotypes Sialidosis, type I, 256550; Sialidosis, type II, 256550 for gene: NEU1
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.9 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.9 NECTIN4 Louise Daugherty Added phenotypes Ectodermal dysplasia-syndactyly syndrome 1, 613573 for gene: NECTIN4
Severe Paediatric Disorders v0.9 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.9 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.9 NDST1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 46, 616116 for gene: NDST1
Severe Paediatric Disorders v0.9 NAXE Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
Severe Paediatric Disorders v0.9 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.9 NANS Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 for gene: NANS
Severe Paediatric Disorders v0.9 NAGLU Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
Severe Paediatric Disorders v0.9 MYRF Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
Severe Paediatric Disorders v0.9 MYO7A Louise Daugherty Added phenotypes Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317; Deafness, autosomal recessive 2, 600060 for gene: MYO7A
Severe Paediatric Disorders v0.9 MYO6 Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
Severe Paediatric Disorders v0.9 MYO5B Louise Daugherty Added phenotypes Microvillus inclusion disease, 251850 for gene: MYO5B
Severe Paediatric Disorders v0.9 MYO3A Louise Daugherty Added phenotypes Deafness, autosomal recessive 30, 607101 for gene: MYO3A
Severe Paediatric Disorders v0.9 MYO1E Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 6, 614131 for gene: MYO1E
Severe Paediatric Disorders v0.9 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.9 MYO15A Louise Daugherty Added phenotypes Deafness, autosomal recessive 3, 600316 for gene: MYO15A
Severe Paediatric Disorders v0.9 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.9 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.9 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 MT-TV Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
Severe Paediatric Disorders v0.9 MT-TK Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
Severe Paediatric Disorders v0.9 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.9 MT-TE Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
Severe Paediatric Disorders v0.9 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.9 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.9 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.9 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.9 MT-CO3 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3
Severe Paediatric Disorders v0.9 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.9 MSX2 Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
Severe Paediatric Disorders v0.9 MSX1 Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
Severe Paediatric Disorders v0.9 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.9 MSH6 Louise Daugherty Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6
Severe Paediatric Disorders v0.9 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.9 MRE11 Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
Severe Paediatric Disorders v0.9 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
Severe Paediatric Disorders v0.9 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.9 MMAA Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
Severe Paediatric Disorders v0.9 MKKS Louise Daugherty Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Severe Paediatric Disorders v0.9 MICU1 Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
Severe Paediatric Disorders v0.9 MFSD8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
Severe Paediatric Disorders v0.9 MFSD2A Louise Daugherty Added phenotypes Microcephaly 15, primary, autosomal recessive, 616486 for gene: MFSD2A
Severe Paediatric Disorders v0.9 MFF Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
Severe Paediatric Disorders v0.9 METTL23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 44, 615942 for gene: METTL23
Severe Paediatric Disorders v0.9 MESP2 Louise Daugherty Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 for gene: MESP2
Severe Paediatric Disorders v0.9 MED23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 18, 614249 for gene: MED23
Severe Paediatric Disorders v0.9 MED17 Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
Severe Paediatric Disorders v0.9 MED13L Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
Severe Paediatric Disorders v0.9 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.9 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.9 MCOLN1 Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Severe Paediatric Disorders v0.9 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.9 MC2R Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
Severe Paediatric Disorders v0.9 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.9 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.9 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.9 MATN3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 5, 607078; ?Spondyloepimetaphyseal dysplasia, 608728 for gene: MATN3
Severe Paediatric Disorders v0.9 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.9 MAST1 Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
Severe Paediatric Disorders v0.9 MARVELD2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 49, 610153 for gene: MARVELD2
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.9 MAP3K7 Louise Daugherty Added phenotypes Cardiospondylocarpofacial syndrome, 157800; Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7
Severe Paediatric Disorders v0.9 MANBA Louise Daugherty Added phenotypes Mannosidosis, beta, 248510 for gene: MANBA
Severe Paediatric Disorders v0.9 MAN2B1 Louise Daugherty Added phenotypes Mannosidosis, alpha-, types I and II, 248500 for gene: MAN2B1
Severe Paediatric Disorders v0.9 MAN1B1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 15, 614202 for gene: MAN1B1
Severe Paediatric Disorders v0.9 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.9 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.9 MAB21L2 Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
Severe Paediatric Disorders v0.9 LTBP4 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IC, 613177 for gene: LTBP4
Severe Paediatric Disorders v0.9 LTBP3 Louise Daugherty Added phenotypes Geleophysic dysplasia 3, 617809; Dental anomalies and short stature, 601216 for gene: LTBP3
Severe Paediatric Disorders v0.9 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.9 LRTOMT Louise Daugherty Added phenotypes Deafness, autosomal recessive 63, 611451 for gene: LRTOMT
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 LRP4 Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
Severe Paediatric Disorders v0.9 LPIN1 Louise Daugherty Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Severe Paediatric Disorders v0.9 LOXHD1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 77, 613079 for gene: LOXHD1
Severe Paediatric Disorders v0.9 LNPK Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LIPT2 Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Severe Paediatric Disorders v0.9 LINS1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 27, 614340 for gene: LINS1
Severe Paediatric Disorders v0.9 LIAS Louise Daugherty Added phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 for gene: LIAS
Severe Paediatric Disorders v0.9 LHFPL5 Louise Daugherty Added phenotypes Deafness, autosomal recessive 67, 610265 for gene: LHFPL5
Severe Paediatric Disorders v0.9 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.9 LFNG Louise Daugherty Added phenotypes Spondylocostal dysostosis 3, autosomal recessive, 609813 for gene: LFNG
Severe Paediatric Disorders v0.9 LEPR Louise Daugherty Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR
Severe Paediatric Disorders v0.9 LEMD3 Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
Severe Paediatric Disorders v0.9 LBR Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
Severe Paediatric Disorders v0.9 LARS2 Louise Daugherty Added phenotypes ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 for gene: LARS2
Severe Paediatric Disorders v0.9 LAMC2 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMC2
Severe Paediatric Disorders v0.9 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.9 LAMA3 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 for gene: LAMA3
Severe Paediatric Disorders v0.9 LAMA2 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Severe Paediatric Disorders v0.9 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.9 KRT5 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5
Severe Paediatric Disorders v0.9 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.9 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.9 KNL1 Louise Daugherty Added phenotypes Microcephaly 4, primary, autosomal recessive, 604321 for gene: KNL1
Severe Paediatric Disorders v0.9 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.9 KIT Louise Daugherty Added phenotypes Piebaldism, 172800; Mastocytosis, cutaneous, 154800 for gene: KIT
Severe Paediatric Disorders v0.9 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.9 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.9 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.9 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.9 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.9 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.9 KIF14 Louise Daugherty Added phenotypes Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 for gene: KIF14
Severe Paediatric Disorders v0.9 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.9 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.9 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.9 KDM5B Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 65, 618109 for gene: KDM5B
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.9 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.9 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.9 KCNC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 7, 616187 for gene: KCNC1
Severe Paediatric Disorders v0.9 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.9 JUP Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
Severe Paediatric Disorders v0.9 JAK3 Louise Daugherty Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 for gene: JAK3
Severe Paediatric Disorders v0.9 JAGN1 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 6, autosomal recessive, 616022 for gene: JAGN1
Severe Paediatric Disorders v0.9 ITPR1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1
Severe Paediatric Disorders v0.9 ITPA Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
Severe Paediatric Disorders v0.9 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.9 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.9 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
Severe Paediatric Disorders v0.9 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.9 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.9 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.9 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
Severe Paediatric Disorders v0.9 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.9 INPP5E Louise Daugherty Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E
Severe Paediatric Disorders v0.9 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.9 IMPAD1 Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
Severe Paediatric Disorders v0.9 ILDR1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 42, 609646 for gene: ILDR1
Severe Paediatric Disorders v0.9 IL7R Louise Daugherty Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 for gene: IL7R
Severe Paediatric Disorders v0.9 IL36RN Louise Daugherty Added phenotypes Psoriasis 14, pustular, 614204 for gene: IL36RN
Severe Paediatric Disorders v0.9 IL17RC Louise Daugherty Added phenotypes Candidiasis, familial, 9, 616445 for gene: IL17RC
Severe Paediatric Disorders v0.9 IL12B Louise Daugherty Added phenotypes Immunodeficiency 29, mycobacteriosis, 614890 for gene: IL12B
Severe Paediatric Disorders v0.9 IL11RA Louise Daugherty Added phenotypes Craniosynostosis and dental anomalies, 614188 for gene: IL11RA
Severe Paediatric Disorders v0.9 IL10RB Louise Daugherty Added phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 for gene: IL10RB
Severe Paediatric Disorders v0.9 IL10RA Louise Daugherty Added phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 for gene: IL10RA
Severe Paediatric Disorders v0.9 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
Severe Paediatric Disorders v0.9 IHH Louise Daugherty Added phenotypes Acrocapitofemoral dysplasia, 607778; Brachydactyly, type A1, 112500 for gene: IHH
Severe Paediatric Disorders v0.9 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.9 IGF1R Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
Severe Paediatric Disorders v0.9 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.9 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.9 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.9 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.9 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.9 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.9 IFT122 Louise Daugherty Added phenotypes Cranioectodermal dysplasia 1, 218330 for gene: IFT122
Severe Paediatric Disorders v0.9 IFNGR2 Louise Daugherty Added phenotypes Immunodeficiency 28, mycobacteriosis, 614889 for gene: IFNGR2
Severe Paediatric Disorders v0.9 IFNGR1 Louise Daugherty Added phenotypes Immunodeficiency 27A, mycobacteriosis, AR, 209950; Immunodeficiency 27B, mycobacteriosis, AD, 615978 for gene: IFNGR1
Severe Paediatric Disorders v0.9 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.9 IFIH1 Louise Daugherty Added phenotypes Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846 for gene: IFIH1
Severe Paediatric Disorders v0.9 IDUA Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA
Severe Paediatric Disorders v0.9 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 IARS2 Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
Severe Paediatric Disorders v0.9 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.9 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.9 HSPG2 Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Severe Paediatric Disorders v0.9 HSD3B7 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
Severe Paediatric Disorders v0.9 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.9 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.9 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.9 HPCA Louise Daugherty Added phenotypes Dystonia 2, torsion, autosomal recessive, 224500 for gene: HPCA
Severe Paediatric Disorders v0.9 HOXC13 Louise Daugherty Added phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 for gene: HOXC13
Severe Paediatric Disorders v0.9 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.9 HOXA1 Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HINT1 Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
Severe Paediatric Disorders v0.9 HGSNAT Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis pigmentosa 73, 616544 for gene: HGSNAT
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.9 HESX1 Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
Severe Paediatric Disorders v0.9 HES7 Louise Daugherty Added phenotypes Spondylocostal dysostosis 4, autosomal recessive, 613686 for gene: HES7
Severe Paediatric Disorders v0.9 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.9 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.9 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.9 HAX1 Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 for gene: HAX1
Severe Paediatric Disorders v0.9 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.9 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.9 GUSB Louise Daugherty Added phenotypes Mucopolysaccharidosis VII, 253220 for gene: GUSB
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 GSC Louise Daugherty Added phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 for gene: GSC
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 GRM6 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6
Severe Paediatric Disorders v0.9 GRM1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831 for gene: GRM1
Severe Paediatric Disorders v0.9 GRIN1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
Severe Paediatric Disorders v0.9 GRIK2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive, 6, 611092 for gene: GRIK2
Severe Paediatric Disorders v0.9 GRID2 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Severe Paediatric Disorders v0.9 GPT2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 49, 616281 for gene: GPT2
Severe Paediatric Disorders v0.9 GPR179 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179
Severe Paediatric Disorders v0.9 GPD1 Louise Daugherty Added phenotypes Hypertriglyceridemia, transient infantile, 614480 for gene: GPD1
Severe Paediatric Disorders v0.9 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.9 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.9 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.9 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
Severe Paediatric Disorders v0.9 GOSR2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 6, 614018 for gene: GOSR2
Severe Paediatric Disorders v0.9 GNS Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIID, 252940 for gene: GNS
Severe Paediatric Disorders v0.9 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.9 GNPTAB Louise Daugherty Added phenotypes Mucolipidosis III alpha/beta, 252600; Mucolipidosis II alpha/beta, 252500 for gene: GNPTAB
Severe Paediatric Disorders v0.9 GNPAT Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 2, 222765 for gene: GNPAT
Severe Paediatric Disorders v0.9 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.9 GNAS Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
Severe Paediatric Disorders v0.9 GMPPA Louise Daugherty Added phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 for gene: GMPPA
Severe Paediatric Disorders v0.9 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.9 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.9 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GIPC3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 15, 601869 for gene: GIPC3
Severe Paediatric Disorders v0.9 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.9 GFER Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 GDAP1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
Severe Paediatric Disorders v0.9 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 GATA3 Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
Severe Paediatric Disorders v0.9 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.9 GALNT3 Louise Daugherty Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 for gene: GALNT3
Severe Paediatric Disorders v0.9 GALNS Louise Daugherty Added phenotypes Mucopolysaccharidosis IVA, 253000 for gene: GALNS
Severe Paediatric Disorders v0.9 G6PC3 Louise Daugherty Added phenotypes Dursun syndrome, 612541; Neutropenia, severe congenital 4, autosomal recessive, 612541 for gene: G6PC3
Severe Paediatric Disorders v0.9 FZD2 Louise Daugherty Added phenotypes Omodysplasia 2, 164745 for gene: FZD2
Severe Paediatric Disorders v0.9 FYCO1 Louise Daugherty Added phenotypes Cataract 18, autosomal recessive, 610019 for gene: FYCO1
Severe Paediatric Disorders v0.9 FUCA1 Louise Daugherty Added phenotypes Fucosidosis, 230000 for gene: FUCA1
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FOXF1 Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
Severe Paediatric Disorders v0.9 FOXE3 Louise Daugherty Added phenotypes Cataract 34, multiple types, 612968; Anterior segment dysgenesis 2, multiple subtypes, 610256 for gene: FOXE3
Severe Paediatric Disorders v0.9 FOXC2 Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
Severe Paediatric Disorders v0.9 FOXC1 Louise Daugherty Added phenotypes Axenfeld-Rieger syndrome, type 3, 602482; Anterior segment dysgenesis 3, multiple subtypes, 601631 for gene: FOXC1
Severe Paediatric Disorders v0.9 FN1 Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
Severe Paediatric Disorders v0.9 FMN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 47, 616193 for gene: FMN2
Severe Paediatric Disorders v0.9 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.9 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.9 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FH Louise Daugherty Added phenotypes Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 for gene: FH
Severe Paediatric Disorders v0.9 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.9 FGF3 Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
Severe Paediatric Disorders v0.9 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.9 FGF16 Louise Daugherty Added phenotypes Metacarpal 4-5 fusion, 309630 for gene: FGF16
Severe Paediatric Disorders v0.9 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.9 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
Severe Paediatric Disorders v0.9 FERMT3 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, type III, 612840 for gene: FERMT3
Severe Paediatric Disorders v0.9 FDX2 Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
Severe Paediatric Disorders v0.9 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.9 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.9 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.9 FAT4 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.9 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.9 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 F11 Louise Daugherty Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11
Severe Paediatric Disorders v0.9 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.9 EXT2 Louise Daugherty Added phenotypes Exostoses, multiple, type 2, 133701; Seizures, scoliosis, and macrocephaly syndrome, 616682 for gene: EXT2
Severe Paediatric Disorders v0.9 EXOSC3 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 for gene: EXOSC3
Severe Paediatric Disorders v0.9 EVC2 Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2
Severe Paediatric Disorders v0.9 EVC Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; ?Weyers acrofacial dysostosis, 193530 for gene: EVC
Severe Paediatric Disorders v0.9 ESRRB Louise Daugherty Added phenotypes Deafness, autosomal recessive 35, 608565 for gene: ESRRB
Severe Paediatric Disorders v0.9 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.9 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.9 ERCC8 Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8
Severe Paediatric Disorders v0.9 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.9 ERCC3 Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
Severe Paediatric Disorders v0.9 ERCC2 Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
Severe Paediatric Disorders v0.9 EPM2A Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 for gene: EPM2A
Severe Paediatric Disorders v0.9 EPB42 Louise Daugherty Added phenotypes Spherocytosis, type 5, 612690 for gene: EPB42
Severe Paediatric Disorders v0.9 EPB41 Louise Daugherty Added phenotypes Elliptocytosis-1, 611804 for gene: EPB41
Severe Paediatric Disorders v0.9 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.9 ENPP1 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 1, 208000; Cole disease, 615522; Hypophosphatemic rickets, autosomal recessive, 2, 613312 for gene: ENPP1
Severe Paediatric Disorders v0.9 ENG Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 for gene: ENG
Severe Paediatric Disorders v0.9 ELP2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 58, 617270 for gene: ELP2
Severe Paediatric Disorders v0.9 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.9 ELN Louise Daugherty Added phenotypes Cutis laxa, autosomal dominant, 123700; Supravalvar aortic stenosis, 185500 for gene: ELN
Severe Paediatric Disorders v0.9 EIF3F Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 67, 618295 for gene: EIF3F
Severe Paediatric Disorders v0.9 EFTUD2 Louise Daugherty Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 for gene: EFTUD2
Severe Paediatric Disorders v0.9 EFNB1 Louise Daugherty Added phenotypes Craniofrontonasal dysplasia, 304110 for gene: EFNB1
Severe Paediatric Disorders v0.9 EDNRA Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
Severe Paediatric Disorders v0.9 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.9 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.9 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.9 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.9 EBP Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked dominant, 302960; MEND syndrome, 300960 for gene: EBP
Severe Paediatric Disorders v0.9 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.9 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.9 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.9 DYM Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
Severe Paediatric Disorders v0.9 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.9 DOK7 Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
Severe Paediatric Disorders v0.9 DOCK8 Louise Daugherty Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 for gene: DOCK8
Severe Paediatric Disorders v0.9 DNM1L Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
Severe Paediatric Disorders v0.9 DNAJC5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 for gene: DNAJC5
Severe Paediatric Disorders v0.9 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.9 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.9 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.9 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.9 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.9 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.9 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.9 DNA2 Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
Severe Paediatric Disorders v0.9 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.9 DLL3 Louise Daugherty Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 for gene: DLL3
Severe Paediatric Disorders v0.9 DKC1 Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: DKC1
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.9 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.9 DDR2 Louise Daugherty Added phenotypes Warburg-Cinotti syndrome, 618175; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 for gene: DDR2
Severe Paediatric Disorders v0.9 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.9 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.9 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.9 DCC Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
Severe Paediatric Disorders v0.9 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.9 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.9 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.9 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.9 CYP21A2 Louise Daugherty Added phenotypes Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 for gene: CYP21A2
Severe Paediatric Disorders v0.9 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.9 CYP11B1 Louise Daugherty Added phenotypes Aldosteronism, glucocorticoid-remediable, 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 for gene: CYP11B1
Severe Paediatric Disorders v0.9 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.9 CWF19L1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 for gene: CWF19L1
Severe Paediatric Disorders v0.9 CTSK Louise Daugherty Added phenotypes Pycnodysostosis, 265800 for gene: CTSK
Severe Paediatric Disorders v0.9 CTSF Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 for gene: CTSF
Severe Paediatric Disorders v0.9 CTSD Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD
Severe Paediatric Disorders v0.9 CTSA Louise Daugherty Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Severe Paediatric Disorders v0.9 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.9 CTNNA2 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
Severe Paediatric Disorders v0.9 CSTB Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB
Severe Paediatric Disorders v0.9 CSF3R Louise Daugherty Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R
Severe Paediatric Disorders v0.9 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.9 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.9 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.9 CRB2 Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 COX6A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
Severe Paediatric Disorders v0.9 COMP Louise Daugherty Added phenotypes Pseudoachondroplasia, 177170; Epiphyseal dysplasia, multiple, 1, 132400 for gene: COMP
Severe Paediatric Disorders v0.9 COL9A3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
Severe Paediatric Disorders v0.9 COL9A2 Louise Daugherty Added phenotypes ?Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2, 600204 for gene: COL9A2
Severe Paediatric Disorders v0.9 COL9A1 Louise Daugherty Added phenotypes Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135 for gene: COL9A1
Severe Paediatric Disorders v0.9 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
Severe Paediatric Disorders v0.9 COL6A2 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
Severe Paediatric Disorders v0.9 COL5A2 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 2, 130010 for gene: COL5A2
Severe Paediatric Disorders v0.9 COL5A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 1, 130000 for gene: COL5A1
Severe Paediatric Disorders v0.9 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.9 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 COL17A1 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
Severe Paediatric Disorders v0.9 COL11A2 Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2
Severe Paediatric Disorders v0.9 COL11A1 Louise Daugherty Added phenotypes ?Deafness, autosomal dominant 37, 618533; Marshall syndrome, 154780; Stickler syndrome, type II, 604841; Fibrochondrogenesis 1, 228520 for gene: COL11A1
Severe Paediatric Disorders v0.9 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.9 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.9 COA7 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
Severe Paediatric Disorders v0.9 CNTNAP2 Louise Daugherty Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2
Severe Paediatric Disorders v0.9 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.9 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.9 CLP1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 10, 615803 for gene: CLP1
Severe Paediatric Disorders v0.9 CLN8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
Severe Paediatric Disorders v0.9 CLN6 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6
Severe Paediatric Disorders v0.9 CLN5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5
Severe Paediatric Disorders v0.9 CLN3 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3
Severe Paediatric Disorders v0.9 CLDN14 Louise Daugherty Added phenotypes Deafness, autosomal recessive 29, 614035 for gene: CLDN14
Severe Paediatric Disorders v0.9 CLDN1 Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
Severe Paediatric Disorders v0.9 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.9 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.9 CIT Louise Daugherty Added phenotypes Microcephaly 17, primary, autosomal recessive, 617090 for gene: CIT
Severe Paediatric Disorders v0.9 ICK Louise Daugherty Added phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK
Severe Paediatric Disorders v0.9 CIB2 Louise Daugherty Added phenotypes Usher syndrome, type IJ, 614869; Deafness, autosomal recessive 48, 609439 for gene: CIB2
Severe Paediatric Disorders v0.9 CHST3 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.9 CHD4 Louise Daugherty Added phenotypes Sifrim-Hitz-Weiss syndrome, 617159 for gene: CHD4
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.9 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.9 CEP152 Louise Daugherty Added phenotypes Microcephaly 9, primary, autosomal recessive, 614852; Seckel syndrome 5, 613823 for gene: CEP152
Severe Paediatric Disorders v0.9 CEP135 Louise Daugherty Added phenotypes Microcephaly 8, primary, autosomal recessive, 614673 for gene: CEP135
Severe Paediatric Disorders v0.9 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.9 CENPJ Louise Daugherty Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393; ?Seckel syndrome 4, 613676 for gene: CENPJ
Severe Paediatric Disorders v0.9 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.9 CDK5RAP2 Louise Daugherty Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2
Severe Paediatric Disorders v0.9 CDK10 Louise Daugherty Added phenotypes Al Kaissi syndrome, 617694 for gene: CDK10
Severe Paediatric Disorders v0.9 CDH3 Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
Severe Paediatric Disorders v0.9 CDH23 Louise Daugherty Added phenotypes Usher syndrome, type 1D, 601067; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 12, 601386 for gene: CDH23
Severe Paediatric Disorders v0.9 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.9 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.9 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.9 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.9 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.9 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.9 CCBE1 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 for gene: CCBE1
Severe Paediatric Disorders v0.9 CC2D1A Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 3, 608443 for gene: CC2D1A
Severe Paediatric Disorders v0.9 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.9 CASK Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
Severe Paediatric Disorders v0.9 CARD9 Louise Daugherty Added phenotypes Candidiasis, familial, 2, autosomal recessive, 212050 for gene: CARD9
Severe Paediatric Disorders v0.9 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.9 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.9 CAPN3 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3
Severe Paediatric Disorders v0.9 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.9 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.9 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.9 CACNA1S Louise Daugherty Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 CACNA1A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
Severe Paediatric Disorders v0.9 CA2 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 C12orf4 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 66, 618221 for gene: C12orf4
Severe Paediatric Disorders v0.9 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.9 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.9 BMPR1B Louise Daugherty Added phenotypes Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A2, 112600; Brachydactyly, type A1, D, 616849 for gene: BMPR1B
Severe Paediatric Disorders v0.9 BMPR1A Louise Daugherty Added phenotypes Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Polyposis, juvenile intestinal, 174900 for gene: BMPR1A
Severe Paediatric Disorders v0.9 BMPER Louise Daugherty Added phenotypes Diaphanospondylodysostosis, 608022 for gene: BMPER
Severe Paediatric Disorders v0.9 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.9 BGN Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN
Severe Paediatric Disorders v0.9 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.9 B3GALT6 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
Severe Paediatric Disorders v0.9 B2M Louise Daugherty Added phenotypes ?Amyloidosis, familial visceral; Immunodeficiency 43, 241600 for gene: B2M
Severe Paediatric Disorders v0.9 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.9 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.9 ATP6V1B1 Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
Severe Paediatric Disorders v0.9 ATP6V1A Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
Severe Paediatric Disorders v0.9 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.9 ATP1A2 Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481 for gene: ATP1A2
Severe Paediatric Disorders v0.9 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.9 ATN1 Louise Daugherty Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1
Severe Paediatric Disorders v0.9 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.9 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.9 ASPM Louise Daugherty Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 for gene: ASPM
Severe Paediatric Disorders v0.9 ASAH1 Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
Severe Paediatric Disorders v0.9 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.9 ARSB Louise Daugherty Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 for gene: ARSB
Severe Paediatric Disorders v0.9 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.9 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.9 ARID2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 6, 617808 for gene: ARID2
Severe Paediatric Disorders v0.9 ARID1B Louise Daugherty Added phenotypes Coffin-Siris syndrome 1, 135900 for gene: ARID1B
Severe Paediatric Disorders v0.9 ARID1A Louise Daugherty Added phenotypes Coffin-Siris syndrome 2, 614607 for gene: ARID1A
Severe Paediatric Disorders v0.9 AR Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
Severe Paediatric Disorders v0.9 APOA1 Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.9 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.9 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.9 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.9 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.9 ANTXR2 Louise Daugherty Added phenotypes Hyaline fibromatosis syndrome, 228600 for gene: ANTXR2
Severe Paediatric Disorders v0.9 ANO5 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
Severe Paediatric Disorders v0.9 ANO10 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 for gene: ANO10
Severe Paediatric Disorders v0.9 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKH Louise Daugherty Added phenotypes Craniometaphyseal dysplasia, 123000; Chondrocalcinosis 2, 118600 for gene: ANKH
Severe Paediatric Disorders v0.9 ANK1 Louise Daugherty Added phenotypes Spherocytosis, type 1, 182900 for gene: ANK1
Severe Paediatric Disorders v0.9 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
Severe Paediatric Disorders v0.9 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.9 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.9 ALX4 Louise Daugherty Added phenotypes Parietal foramina 2, 609597; Frontonasal dysplasia 2, 613451 for gene: ALX4
Severe Paediatric Disorders v0.9 ALX3 Louise Daugherty Added phenotypes Frontonasal dysplasia 1, 136760 for gene: ALX3
Severe Paediatric Disorders v0.9 ALX1 Louise Daugherty Added phenotypes ?Frontonasal dysplasia 3, 613456 for gene: ALX1
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALPL Louise Daugherty Added phenotypes Hypophosphatasia, childhood, 241510; Hypophosphatasia, adult, 146300; Hypophosphatasia, infantile, 241500; Odontohypophosphatasia, 146300 for gene: ALPL
Severe Paediatric Disorders v0.9 ALOXE3 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
Severe Paediatric Disorders v0.9 ALOX12B Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
Severe Paediatric Disorders v0.9 ALKBH8 Louise Daugherty Added phenotypes Intellectual developmental disorder, autosomal recessive 71, 618504 for gene: ALKBH8
Severe Paediatric Disorders v0.9 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 AKR1D1 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
Severe Paediatric Disorders v0.9 AK2 Louise Daugherty Added phenotypes Reticular dysgenesis, 267500 for gene: AK2
Severe Paediatric Disorders v0.9 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.9 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.9 AGTR1 Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGTR1
Severe Paediatric Disorders v0.9 AGT Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGT
Severe Paediatric Disorders v0.9 AGPS Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 for gene: AGPS
Severe Paediatric Disorders v0.9 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.9 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.9 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.9 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.9 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.9 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.9 ACVRL1 Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 for gene: ACVRL1
Severe Paediatric Disorders v0.9 ACVR1 Louise Daugherty Added phenotypes Fibrodysplasia ossificans progressiva, 135100 for gene: ACVR1
Severe Paediatric Disorders v0.9 ACTN4 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 1, 603278 for gene: ACTN4
Severe Paediatric Disorders v0.9 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.9 ABCG8 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG8
Severe Paediatric Disorders v0.9 ABCG5 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG5
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Severe Paediatric Disorders v0.9 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.9 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.9 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.9 AASS Louise Daugherty Added phenotypes Hyperlysinemia, 238700; Saccharopinuria, 268700 for gene: AASS
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.9 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.9 VPS35 Louise Daugherty Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.9 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.9 NRXN3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
Severe Paediatric Disorders v0.9 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.9 UNC119 Louise Daugherty Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
Severe Paediatric Disorders v0.9 SNAP25 Louise Daugherty Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
Severe Paediatric Disorders v0.9 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.9 SIGMAR1 Louise Daugherty Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
Severe Paediatric Disorders v0.9 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.9 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.9 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.9 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.9 PEX11B Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Severe Paediatric Disorders v0.9 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.9 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.9 IL17F Louise Daugherty Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
Severe Paediatric Disorders v0.9 HYAL1 Louise Daugherty Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
Severe Paediatric Disorders v0.9 FRMD4A Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
Severe Paediatric Disorders v0.9 APOL1 Louise Daugherty Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
Severe Paediatric Disorders v0.9 ACD Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
Severe Paediatric Disorders v0.9 ZSWIM6 Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
Severe Paediatric Disorders v0.9 ZMPSTE24 Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
Severe Paediatric Disorders v0.9 ZIC1 Louise Daugherty Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
Severe Paediatric Disorders v0.9 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.9 ZFP57 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Severe Paediatric Disorders v0.9 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Severe Paediatric Disorders v0.9 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.9 WWOX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
Severe Paediatric Disorders v0.9 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.9 WRAP53 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 for gene: WRAP53
Severe Paediatric Disorders v0.9 WNT10B Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
Severe Paediatric Disorders v0.9 WNT10A Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
Severe Paediatric Disorders v0.9 WNT1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.9 WDR62 Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
Severe Paediatric Disorders v0.9 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.9 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.9 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 WARS2 Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Severe Paediatric Disorders v0.9 VRK1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 for gene: VRK1
Severe Paediatric Disorders v0.9 VPS53 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 for gene: VPS53
Severe Paediatric Disorders v0.9 VPS45 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 for gene: VPS45
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VPS13D Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D
Severe Paediatric Disorders v0.9 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.9 VMA21 Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 VKORC1 Louise Daugherty Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700 for gene: VKORC1
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.9 VDR Louise Daugherty Added phenotypes Rickets, vitamin D-resistant, type IIA, 277440 for gene: VDR
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 UVSSA Louise Daugherty Added phenotypes UV-sensitive syndrome 3, 614640 for gene: UVSSA
Severe Paediatric Disorders v0.9 USH1C Louise Daugherty Added phenotypes Usher syndrome, type 1C, 276904; Deafness, autosomal recessive 18A, 602092 for gene: USH1C
Severe Paediatric Disorders v0.9 UNC13D Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 for gene: UNC13D
Severe Paediatric Disorders v0.9 UGT1A1 Louise Daugherty Added phenotypes Crigler-Najjar syndrome, type I, 218800; Crigler-Najjar syndrome, type II, 606785; Hyperbilirubinemia, familial transient neonatal, 237900 for gene: UGT1A1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UBA5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
Severe Paediatric Disorders v0.9 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.9 TWNK Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
Severe Paediatric Disorders v0.9 TWIST2 Louise Daugherty Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2
Severe Paediatric Disorders v0.9 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.9 TUSC3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 7, 611093 for gene: TUSC3
Severe Paediatric Disorders v0.9 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.9 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.9 TUBG1 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
Severe Paediatric Disorders v0.9 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.9 TUBB3 Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.9 TUBB2B Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.9 TUBB2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TUBA8 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
Severe Paediatric Disorders v0.9 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 TTI2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 39, 615541 for gene: TTI2
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TSEN54 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 for gene: TSEN54
Severe Paediatric Disorders v0.9 TSEN2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 for gene: TSEN2
Severe Paediatric Disorders v0.9 TSC2 Louise Daugherty Added phenotypes Tuberous sclerosis-2, 613254 for gene: TSC2
Severe Paediatric Disorders v0.9 TSC1 Louise Daugherty Added phenotypes Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690 for gene: TSC1
Severe Paediatric Disorders v0.9 TRPV6 Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.9 TRPM1 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Severe Paediatric Disorders v0.9 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.9 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.9 TRMU Louise Daugherty Added phenotypes Liver failure, transient infantile, 613070 for gene: TRMU
Severe Paediatric Disorders v0.9 TRMT1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 68, 618302 for gene: TRMT1
Severe Paediatric Disorders v0.9 TRIP11 Louise Daugherty Added phenotypes Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600 for gene: TRIP11
Severe Paediatric Disorders v0.9 TRIOBP Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.9 TRIM32 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Severe Paediatric Disorders v0.9 TREX1 Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
Severe Paediatric Disorders v0.9 TREM2 Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Severe Paediatric Disorders v0.9 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.9 TRAPPC2 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Severe Paediatric Disorders v0.9 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TRAPPC11 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 for gene: TRAPPC11
Severe Paediatric Disorders v0.9 TPP1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1
Severe Paediatric Disorders v0.9 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.9 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.9 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 TOR1A Louise Daugherty Added phenotypes Dystonia-1, torsion, 128100 for gene: TOR1A
Severe Paediatric Disorders v0.9 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.9 TOE1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 for gene: TOE1
Severe Paediatric Disorders v0.9 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TNFSF11 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 2, 259710 for gene: TNFSF11
Severe Paediatric Disorders v0.9 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.9 TMPRSS3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 8/10, 601072 for gene: TMPRSS3
Severe Paediatric Disorders v0.9 TMIE Louise Daugherty Added phenotypes Deafness, autosomal recessive 6, 600971 for gene: TMIE
Severe Paediatric Disorders v0.9 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.9 TMEM43 Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
Severe Paediatric Disorders v0.9 TMEM38B Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.9 TMC8 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Severe Paediatric Disorders v0.9 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.9 TMC1 Louise Daugherty Added phenotypes Deafness, autosomal dominant 36, 606705; Deafness, autosomal recessive 7, 600974 for gene: TMC1
Severe Paediatric Disorders v0.9 TK2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
Severe Paediatric Disorders v0.9 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.9 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.9 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.9 THAP1 Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
Severe Paediatric Disorders v0.9 TH Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
Severe Paediatric Disorders v0.9 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.9 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.9 TERC Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC
Severe Paediatric Disorders v0.9 TECTA Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.9 TCIRG1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 for gene: TCIRG1
Severe Paediatric Disorders v0.9 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.9 TCAP Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
Severe Paediatric Disorders v0.9 TBX6 Louise Daugherty Added phenotypes Spondylocostal dysostosis 5, 122600 for gene: TBX6
Severe Paediatric Disorders v0.9 TBX4 Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TBX15 Louise Daugherty Added phenotypes Cousin syndrome, 260660 for gene: TBX15
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.9 TBCD Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
Severe Paediatric Disorders v0.9 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.9 TBC1D23 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 for gene: TBC1D23
Severe Paediatric Disorders v0.9 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 TAPT1 Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
Severe Paediatric Disorders v0.9 TANGO2 Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
Severe Paediatric Disorders v0.9 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.9 STXBP2 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2
Severe Paediatric Disorders v0.9 STX11 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 for gene: STX11
Severe Paediatric Disorders v0.9 STUB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 STRC Louise Daugherty Added phenotypes Deafness, autosomal recessive 16, 603720 for gene: STRC
Severe Paediatric Disorders v0.9 STIL Louise Daugherty Added phenotypes Microcephaly 7, primary, autosomal recessive, 612703 for gene: STIL
Severe Paediatric Disorders v0.9 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.9 STAT1 Louise Daugherty Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1
Severe Paediatric Disorders v0.9 STAR Louise Daugherty Added phenotypes Lipoid adrenal hyperplasia, 201710 for gene: STAR
Severe Paediatric Disorders v0.9 ST3GAL5 Louise Daugherty Added phenotypes Salt and pepper developmental regression syndrome, 609056 for gene: ST3GAL5
Severe Paediatric Disorders v0.9 ST3GAL3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
Severe Paediatric Disorders v0.9 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SPTBN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.9 SPTB Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.9 SPTA1 Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1
Severe Paediatric Disorders v0.9 SPR Louise Daugherty Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR
Severe Paediatric Disorders v0.9 SPPL2A Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
Severe Paediatric Disorders v0.9 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.9 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.9 SOX9 Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
Severe Paediatric Disorders v0.9 SOX4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 10, 618506 for gene: SOX4
Severe Paediatric Disorders v0.9 SOX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
Severe Paediatric Disorders v0.9 SOX17 Louise Daugherty Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Severe Paediatric Disorders v0.9 SOX11 Louise Daugherty Added phenotypes Coffin-Siris syndrome 9, 615866 for gene: SOX11
Severe Paediatric Disorders v0.9 SOST Louise Daugherty Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; Van Buchem disease, 239100 for gene: SOST
Severe Paediatric Disorders v0.9 SNX14 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
Severe Paediatric Disorders v0.9 SNX10 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 8, 615085 for gene: SNX10
Severe Paediatric Disorders v0.9 SNAP29 Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
Severe Paediatric Disorders v0.9 SMARCE1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 5, 616938 for gene: SMARCE1
Severe Paediatric Disorders v0.9 SMARCC2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 8, 618362 for gene: SMARCC2
Severe Paediatric Disorders v0.9 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.9 SMARCAL1 Louise Daugherty Added phenotypes Schimke immunoosseous dysplasia, 242900 for gene: SMARCAL1
Severe Paediatric Disorders v0.9 SMARCA4 Louise Daugherty Added phenotypes Coffin-Siris syndrome 4, 614609 for gene: SMARCA4
Severe Paediatric Disorders v0.9 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.9 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.9 SLC7A7 Louise Daugherty Added phenotypes Lysinuric protein intolerance, 222700 for gene: SLC7A7
Severe Paediatric Disorders v0.9 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.9 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.9 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
Severe Paediatric Disorders v0.9 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.9 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.9 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC35D1 Louise Daugherty Added phenotypes Schneckenbecken dysplasia, 269250 for gene: SLC35D1
Severe Paediatric Disorders v0.9 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.9 SLC2A10 Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10
Severe Paediatric Disorders v0.9 SLC2A1 Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
Severe Paediatric Disorders v0.9 SLC29A3 Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
Severe Paediatric Disorders v0.9 SLC27A4 Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
Severe Paediatric Disorders v0.9 SLC26A4 Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
Severe Paediatric Disorders v0.9 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.9 SLC25A42 Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
Severe Paediatric Disorders v0.9 SLC25A4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
Severe Paediatric Disorders v0.9 SLC25A38 Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.9 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.9 SLC19A2 Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
Severe Paediatric Disorders v0.9 SLC17A5 Louise Daugherty Added phenotypes Sialic acid storage disorder, infantile, 269920; Salla disease, 604369 for gene: SLC17A5
Severe Paediatric Disorders v0.9 SLC12A6 Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
Severe Paediatric Disorders v0.9 SLC10A7 Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.9 SIX5 Louise Daugherty Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Severe Paediatric Disorders v0.9 SIX3 Louise Daugherty Added phenotypes Holoprosencephaly 2, 157170; Schizencephaly, 269160 for gene: SIX3
Severe Paediatric Disorders v0.9 SIX1 Louise Daugherty Added phenotypes Branchiootic syndrome 3, 608389; Deafness, autosomal dominant 23, 605192 for gene: SIX1
Severe Paediatric Disorders v0.9 SIN3A Louise Daugherty Added phenotypes Witteveen-Kolk syndrome, 613406 for gene: SIN3A
Severe Paediatric Disorders v0.9 SIL1 Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Severe Paediatric Disorders v0.9 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
Severe Paediatric Disorders v0.9 SI Louise Daugherty Added phenotypes Sucrase-isomaltase deficiency, congenital, 222900 for gene: SI
Severe Paediatric Disorders v0.9 SHOX Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
Severe Paediatric Disorders v0.9 SHH Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
Severe Paediatric Disorders v0.9 SGSH Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 for gene: SGSH
Severe Paediatric Disorders v0.9 SGCG Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 for gene: SGCG
Severe Paediatric Disorders v0.9 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.9 SGCB Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 for gene: SGCB
Severe Paediatric Disorders v0.9 SGCA Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 for gene: SGCA
Severe Paediatric Disorders v0.9 SF3B4 Louise Daugherty Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Severe Paediatric Disorders v0.9 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.9 SERPINH1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 SEPSECS Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Severe Paediatric Disorders v0.9 SCNN1B Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
Severe Paediatric Disorders v0.9 SCNN1A Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
Severe Paediatric Disorders v0.9 SCN9A Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
Severe Paediatric Disorders v0.9 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.9 SCARB2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
Severe Paediatric Disorders v0.9 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.9 SARS2 Louise Daugherty Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2
Severe Paediatric Disorders v0.9 SAMD9 Louise Daugherty Added phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455; MIRAGE syndrome, 617053 for gene: SAMD9
Severe Paediatric Disorders v0.9 RYR2 Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
Severe Paediatric Disorders v0.9 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.9 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.9 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.9 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.9 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.9 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.9 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.9 RRM2B Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 RPGR Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
Severe Paediatric Disorders v0.9 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.9 ROR2 Louise Daugherty Added phenotypes Robinow syndrome, autosomal recessive, 268310; Brachydactyly, type B1, 113000 for gene: ROR2
Severe Paediatric Disorders v0.9 ROBO3 Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
Severe Paediatric Disorders v0.9 RNASEH1 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
Severe Paediatric Disorders v0.9 RMRP Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
Severe Paediatric Disorders v0.9 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.9 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.9 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.9 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.9 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.9 QRSL1 Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Severe Paediatric Disorders v0.9 QARS Louise Daugherty Added phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 for gene: QARS
Severe Paediatric Disorders v0.9 PYCR1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438 for gene: PYCR1
Severe Paediatric Disorders v0.9 PUS3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3
Severe Paediatric Disorders v0.9 PUS1 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
Severe Paediatric Disorders v0.9 PTPRC Louise Daugherty Added phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 for gene: PTPRC
Severe Paediatric Disorders v0.9 PTPN11 Louise Daugherty Added phenotypes Metachondromatosis, 156250; Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100 for gene: PTPN11
Severe Paediatric Disorders v0.9 PTH1R Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 PSMD12 Louise Daugherty Added phenotypes Stankiewicz-Isidor syndrome, 617516 for gene: PSMD12
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PRSS12 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 1, 249500 for gene: PRSS12
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.9 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.9 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.9 PRKD1 Louise Daugherty Added phenotypes Congenital heart defects and ectodermal dysplasia, 617364 for gene: PRKD1
Severe Paediatric Disorders v0.9 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.9 PRICKLE1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1B, 612437 for gene: PRICKLE1
Severe Paediatric Disorders v0.9 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.9 PPT1 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 for gene: PPT1
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.9 PPIB Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
Severe Paediatric Disorders v0.9 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 POP1 Louise Daugherty Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
Severe Paediatric Disorders v0.9 POLR1A Louise Daugherty Added phenotypes Acrofacial dysostosis, Cincinnati type, 616462 for gene: POLR1A
Severe Paediatric Disorders v0.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.9 POLD1 Louise Daugherty Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
Severe Paediatric Disorders v0.9 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.9 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.9 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.9 PMP22 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
Severe Paediatric Disorders v0.9 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.9 PLK4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
Severe Paediatric Disorders v0.9 PLEC Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
Severe Paediatric Disorders v0.9 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.9 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.9 PITX3 Louise Daugherty Added phenotypes Cataract 11, multiple types, 610623; Anterior segment dysgenesis 1, multiple subtypes, 107250; Cataract 11, syndromic, autosomal recessive, 610623 for gene: PITX3
Severe Paediatric Disorders v0.9 PITX2 Louise Daugherty Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2
Severe Paediatric Disorders v0.9 PIK3R1 Louise Daugherty Added phenotypes Immunodeficiency 36, 616005; SHORT syndrome, 269880; ?Agammaglobulinemia 7, autosomal recessive, 615214 for gene: PIK3R1
Severe Paediatric Disorders v0.9 PIGW Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
Severe Paediatric Disorders v0.9 PIGV Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
Severe Paediatric Disorders v0.9 PIGU Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
Severe Paediatric Disorders v0.9 PIGO Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
Severe Paediatric Disorders v0.9 PIGH Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
Severe Paediatric Disorders v0.9 PIGG Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG
Severe Paediatric Disorders v0.9 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.9 PHKG2 Louise Daugherty Added phenotypes Glycogen storage disease IXc, 613027; Cirrhosis due to liver phosphorylase kinase deficiency for gene: PHKG2
Severe Paediatric Disorders v0.9 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.9 PHKA1 Louise Daugherty Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Severe Paediatric Disorders v0.9 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.9 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.9 PGAP3 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
Severe Paediatric Disorders v0.9 PGAP2 Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
Severe Paediatric Disorders v0.9 PGAP1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 42, 615802 for gene: PGAP1
Severe Paediatric Disorders v0.9 PEX7 Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
Severe Paediatric Disorders v0.9 PEX6 Louise Daugherty Added phenotypes Heimler syndrome 2, 616617; Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Severe Paediatric Disorders v0.9 PEX5 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110; Rhizomelic chondrodysplasia punctata, type 5, 616716; Peroxisome biogenesis disorder 2B, 202370 for gene: PEX5
Severe Paediatric Disorders v0.9 PEX3 Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Severe Paediatric Disorders v0.9 PEX26 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873 for gene: PEX26
Severe Paediatric Disorders v0.9 PEX2 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
Severe Paediatric Disorders v0.9 PEX19 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
Severe Paediatric Disorders v0.9 PEX16 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877 for gene: PEX16
Severe Paediatric Disorders v0.9 PEX14 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
Severe Paediatric Disorders v0.9 PEX13 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
Severe Paediatric Disorders v0.9 PEX12 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
Severe Paediatric Disorders v0.9 PEX10 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Severe Paediatric Disorders v0.9 PEX1 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
Severe Paediatric Disorders v0.9 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PDE4D Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
Severe Paediatric Disorders v0.9 PDE3A Louise Daugherty Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
Severe Paediatric Disorders v0.9 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.9 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.9 PCDH15 Louise Daugherty Added phenotypes Deafness, autosomal recessive 23, 609533; Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067 for gene: PCDH15
Severe Paediatric Disorders v0.9 PCDH12 Louise Daugherty Added phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 for gene: PCDH12
Severe Paediatric Disorders v0.9 PAX9 Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
Severe Paediatric Disorders v0.9 PAX8 Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 PAX2 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 7, 616002; Papillorenal syndrome, 120330 for gene: PAX2
Severe Paediatric Disorders v0.9 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.9 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 P3H1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
Severe Paediatric Disorders v0.9 OTULIN Louise Daugherty Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, 617099 for gene: OTULIN
Severe Paediatric Disorders v0.9 OTOGL Louise Daugherty Added phenotypes Deafness, autosomal recessive 84B, 614944 for gene: OTOGL
Severe Paediatric Disorders v0.9 OTOF Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
Severe Paediatric Disorders v0.9 OTOA Louise Daugherty Added phenotypes Deafness, autosomal recessive 22, 607039 for gene: OTOA
Severe Paediatric Disorders v0.9 OSTM1 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 for gene: OSTM1
Severe Paediatric Disorders v0.9 OSMR Louise Daugherty Added phenotypes Amyloidosis, primary localized cutaneous, 1, 105250 for gene: OSMR
Severe Paediatric Disorders v0.9 OPHN1 Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 ODC1 Louise Daugherty Added phenotypes Global developmental delay; Ectodermal dysplasia; Alopecia; Intellectual disability; Macrocephaly for gene: ODC1
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.9 NTRK2 Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
Severe Paediatric Disorders v0.9 NTRK1 Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
Severe Paediatric Disorders v0.9 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.9 NSUN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 5, 611091 for gene: NSUN2
Severe Paediatric Disorders v0.9 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.9 NR0B1 Louise Daugherty Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018; Adrenal hypoplasia, congenital, 300200 for gene: NR0B1
Severe Paediatric Disorders v0.9 NPR2 Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
Severe Paediatric Disorders v0.9 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NOP10 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
Severe Paediatric Disorders v0.9 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.9 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.9 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.9 NKX3-2 Louise Daugherty Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 for gene: NKX3-2
Severe Paediatric Disorders v0.9 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.9 NIPAL4 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
Severe Paediatric Disorders v0.9 NHP2 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
Severe Paediatric Disorders v0.9 NHLRC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 for gene: NHLRC1
Severe Paediatric Disorders v0.9 NHEJ1 Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
Severe Paediatric Disorders v0.9 NFKBIA Louise Daugherty Added phenotypes Ectodermal dysplasia and immunodeficiency 2, 612132 for gene: NFKBIA
Severe Paediatric Disorders v0.9 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 NEU1 Louise Daugherty Added phenotypes Sialidosis, type I, 256550; Sialidosis, type II, 256550 for gene: NEU1
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.9 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.9 NECTIN4 Louise Daugherty Added phenotypes Ectodermal dysplasia-syndactyly syndrome 1, 613573 for gene: NECTIN4
Severe Paediatric Disorders v0.9 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.9 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.9 NDST1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 46, 616116 for gene: NDST1
Severe Paediatric Disorders v0.9 NAXE Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
Severe Paediatric Disorders v0.9 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.9 NANS Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 for gene: NANS
Severe Paediatric Disorders v0.9 NAGLU Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
Severe Paediatric Disorders v0.9 MYRF Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
Severe Paediatric Disorders v0.9 MYO7A Louise Daugherty Added phenotypes Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317; Deafness, autosomal recessive 2, 600060 for gene: MYO7A
Severe Paediatric Disorders v0.9 MYO6 Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
Severe Paediatric Disorders v0.9 MYO5B Louise Daugherty Added phenotypes Microvillus inclusion disease, 251850 for gene: MYO5B
Severe Paediatric Disorders v0.9 MYO3A Louise Daugherty Added phenotypes Deafness, autosomal recessive 30, 607101 for gene: MYO3A
Severe Paediatric Disorders v0.9 MYO1E Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 6, 614131 for gene: MYO1E
Severe Paediatric Disorders v0.9 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.9 MYO15A Louise Daugherty Added phenotypes Deafness, autosomal recessive 3, 600316 for gene: MYO15A
Severe Paediatric Disorders v0.9 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.9 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.9 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 MT-TV Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
Severe Paediatric Disorders v0.9 MT-TK Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
Severe Paediatric Disorders v0.9 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.9 MT-TE Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
Severe Paediatric Disorders v0.9 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.9 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.9 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.9 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.9 MT-CO3 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3
Severe Paediatric Disorders v0.9 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.9 MSX2 Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
Severe Paediatric Disorders v0.9 MSX1 Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
Severe Paediatric Disorders v0.9 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.9 MSH6 Louise Daugherty Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6
Severe Paediatric Disorders v0.9 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.9 MRE11 Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
Severe Paediatric Disorders v0.9 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
Severe Paediatric Disorders v0.9 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.9 MMAA Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
Severe Paediatric Disorders v0.9 MKKS Louise Daugherty Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Severe Paediatric Disorders v0.9 MICU1 Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
Severe Paediatric Disorders v0.9 MFSD8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
Severe Paediatric Disorders v0.9 MFSD2A Louise Daugherty Added phenotypes Microcephaly 15, primary, autosomal recessive, 616486 for gene: MFSD2A
Severe Paediatric Disorders v0.9 MFF Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
Severe Paediatric Disorders v0.9 METTL23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 44, 615942 for gene: METTL23
Severe Paediatric Disorders v0.9 MESP2 Louise Daugherty Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 for gene: MESP2
Severe Paediatric Disorders v0.9 MED23 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 18, 614249 for gene: MED23
Severe Paediatric Disorders v0.9 MED17 Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
Severe Paediatric Disorders v0.9 MED13L Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
Severe Paediatric Disorders v0.9 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.9 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.9 MCOLN1 Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Severe Paediatric Disorders v0.9 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.9 MC2R Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
Severe Paediatric Disorders v0.9 MBTPS2 Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
Severe Paediatric Disorders v0.9 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.9 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.9 MATN3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 5, 607078; ?Spondyloepimetaphyseal dysplasia, 608728 for gene: MATN3
Severe Paediatric Disorders v0.9 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.9 MAST1 Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
Severe Paediatric Disorders v0.9 MARVELD2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 49, 610153 for gene: MARVELD2
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.9 MAP3K7 Louise Daugherty Added phenotypes Cardiospondylocarpofacial syndrome, 157800; Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7
Severe Paediatric Disorders v0.9 MANBA Louise Daugherty Added phenotypes Mannosidosis, beta, 248510 for gene: MANBA
Severe Paediatric Disorders v0.9 MAN2B1 Louise Daugherty Added phenotypes Mannosidosis, alpha-, types I and II, 248500 for gene: MAN2B1
Severe Paediatric Disorders v0.9 MAN1B1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 15, 614202 for gene: MAN1B1
Severe Paediatric Disorders v0.9 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.9 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.9 MAB21L2 Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
Severe Paediatric Disorders v0.9 LTBP4 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IC, 613177 for gene: LTBP4
Severe Paediatric Disorders v0.9 LTBP3 Louise Daugherty Added phenotypes Geleophysic dysplasia 3, 617809; Dental anomalies and short stature, 601216 for gene: LTBP3
Severe Paediatric Disorders v0.9 LTBP2 Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
Severe Paediatric Disorders v0.9 LRTOMT Louise Daugherty Added phenotypes Deafness, autosomal recessive 63, 611451 for gene: LRTOMT
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 LRP4 Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
Severe Paediatric Disorders v0.9 LPIN1 Louise Daugherty Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Severe Paediatric Disorders v0.9 LOXHD1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 77, 613079 for gene: LOXHD1
Severe Paediatric Disorders v0.9 LNPK Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LIPT2 Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Severe Paediatric Disorders v0.9 LINS1 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 27, 614340 for gene: LINS1
Severe Paediatric Disorders v0.9 LIAS Louise Daugherty Added phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 for gene: LIAS
Severe Paediatric Disorders v0.9 LHFPL5 Louise Daugherty Added phenotypes Deafness, autosomal recessive 67, 610265 for gene: LHFPL5
Severe Paediatric Disorders v0.9 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.9 LFNG Louise Daugherty Added phenotypes Spondylocostal dysostosis 3, autosomal recessive, 609813 for gene: LFNG
Severe Paediatric Disorders v0.9 LEPR Louise Daugherty Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR
Severe Paediatric Disorders v0.9 LEMD3 Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
Severe Paediatric Disorders v0.9 LBR Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
Severe Paediatric Disorders v0.9 LARS2 Louise Daugherty Added phenotypes ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 for gene: LARS2
Severe Paediatric Disorders v0.9 LAMC2 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMC2
Severe Paediatric Disorders v0.9 LAMB3 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: LAMB3
Severe Paediatric Disorders v0.9 LAMA3 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 for gene: LAMA3
Severe Paediatric Disorders v0.9 LAMA2 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Severe Paediatric Disorders v0.9 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.9 KRT5 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex, Koebner type, 131900; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex-MCR, 609352; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex-MP, 131960; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT5
Severe Paediatric Disorders v0.9 KRT14 Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
Severe Paediatric Disorders v0.9 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.9 KNL1 Louise Daugherty Added phenotypes Microcephaly 4, primary, autosomal recessive, 604321 for gene: KNL1
Severe Paediatric Disorders v0.9 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.9 KIT Louise Daugherty Added phenotypes Piebaldism, 172800; Mastocytosis, cutaneous, 154800 for gene: KIT
Severe Paediatric Disorders v0.9 KIF5C Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
Severe Paediatric Disorders v0.9 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.9 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.9 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.9 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.9 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.9 KIF14 Louise Daugherty Added phenotypes Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 for gene: KIF14
Severe Paediatric Disorders v0.9 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.9 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.9 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.9 KDM5B Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 65, 618109 for gene: KDM5B
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.9 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.9 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.9 KCNC1 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 7, 616187 for gene: KCNC1
Severe Paediatric Disorders v0.9 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.9 JUP Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
Severe Paediatric Disorders v0.9 JAK3 Louise Daugherty Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 for gene: JAK3
Severe Paediatric Disorders v0.9 JAGN1 Louise Daugherty Added phenotypes Neutropenia, severe congenital, 6, autosomal recessive, 616022 for gene: JAGN1
Severe Paediatric Disorders v0.9 ITPR1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1
Severe Paediatric Disorders v0.9 ITPA Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
Severe Paediatric Disorders v0.9 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.9 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.9 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
Severe Paediatric Disorders v0.9 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.9 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.9 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.9 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
Severe Paediatric Disorders v0.9 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.9 INPP5E Louise Daugherty Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E
Severe Paediatric Disorders v0.9 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.9 IMPAD1 Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
Severe Paediatric Disorders v0.9 ILDR1 Louise Daugherty Added phenotypes Deafness, autosomal recessive 42, 609646 for gene: ILDR1
Severe Paediatric Disorders v0.9 IL7R Louise Daugherty Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 for gene: IL7R
Severe Paediatric Disorders v0.9 IL36RN Louise Daugherty Added phenotypes Psoriasis 14, pustular, 614204 for gene: IL36RN
Severe Paediatric Disorders v0.9 IL17RC Louise Daugherty Added phenotypes Candidiasis, familial, 9, 616445 for gene: IL17RC
Severe Paediatric Disorders v0.9 IL12B Louise Daugherty Added phenotypes Immunodeficiency 29, mycobacteriosis, 614890 for gene: IL12B
Severe Paediatric Disorders v0.9 IL11RA Louise Daugherty Added phenotypes Craniosynostosis and dental anomalies, 614188 for gene: IL11RA
Severe Paediatric Disorders v0.9 IL10RB Louise Daugherty Added phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 for gene: IL10RB
Severe Paediatric Disorders v0.9 IL10RA Louise Daugherty Added phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 for gene: IL10RA
Severe Paediatric Disorders v0.9 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
Severe Paediatric Disorders v0.9 IHH Louise Daugherty Added phenotypes Acrocapitofemoral dysplasia, 607778; Brachydactyly, type A1, 112500 for gene: IHH
Severe Paediatric Disorders v0.9 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.9 IGF1R Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
Severe Paediatric Disorders v0.9 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.9 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.9 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.9 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.9 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.9 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.9 IFT122 Louise Daugherty Added phenotypes Cranioectodermal dysplasia 1, 218330 for gene: IFT122
Severe Paediatric Disorders v0.9 IFNGR2 Louise Daugherty Added phenotypes Immunodeficiency 28, mycobacteriosis, 614889 for gene: IFNGR2
Severe Paediatric Disorders v0.9 IFNGR1 Louise Daugherty Added phenotypes Immunodeficiency 27A, mycobacteriosis, AR, 209950; Immunodeficiency 27B, mycobacteriosis, AD, 615978 for gene: IFNGR1
Severe Paediatric Disorders v0.9 IFITM5 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type V, 610967 for gene: IFITM5
Severe Paediatric Disorders v0.9 IFIH1 Louise Daugherty Added phenotypes Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846 for gene: IFIH1
Severe Paediatric Disorders v0.9 IDUA Louise Daugherty Added phenotypes Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 for gene: IDUA
Severe Paediatric Disorders v0.9 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 IARS2 Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
Severe Paediatric Disorders v0.9 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.9 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.9 HSPG2 Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Severe Paediatric Disorders v0.9 HSD3B7 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
Severe Paediatric Disorders v0.9 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.9 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.9 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.9 HPCA Louise Daugherty Added phenotypes Dystonia 2, torsion, autosomal recessive, 224500 for gene: HPCA
Severe Paediatric Disorders v0.9 HOXC13 Louise Daugherty Added phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 for gene: HOXC13
Severe Paediatric Disorders v0.9 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.9 HOXA1 Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HINT1 Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
Severe Paediatric Disorders v0.9 HGSNAT Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis pigmentosa 73, 616544 for gene: HGSNAT
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.9 HESX1 Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
Severe Paediatric Disorders v0.9 HES7 Louise Daugherty Added phenotypes Spondylocostal dysostosis 4, autosomal recessive, 613686 for gene: HES7
Severe Paediatric Disorders v0.9 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.9 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.9 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.9 HAX1 Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 for gene: HAX1
Severe Paediatric Disorders v0.9 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.9 H19 Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
Severe Paediatric Disorders v0.9 GUSB Louise Daugherty Added phenotypes Mucopolysaccharidosis VII, 253220 for gene: GUSB
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 GSC Louise Daugherty Added phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 for gene: GSC
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 GRM6 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6
Severe Paediatric Disorders v0.9 GRM1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831 for gene: GRM1
Severe Paediatric Disorders v0.9 GRIN1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
Severe Paediatric Disorders v0.9 GRIK2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive, 6, 611092 for gene: GRIK2
Severe Paediatric Disorders v0.9 GRID2 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Severe Paediatric Disorders v0.9 GPT2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 49, 616281 for gene: GPT2
Severe Paediatric Disorders v0.9 GPR179 Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179
Severe Paediatric Disorders v0.9 GPD1 Louise Daugherty Added phenotypes Hypertriglyceridemia, transient infantile, 614480 for gene: GPD1
Severe Paediatric Disorders v0.9 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.9 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.9 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.9 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
Severe Paediatric Disorders v0.9 GOSR2 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 6, 614018 for gene: GOSR2
Severe Paediatric Disorders v0.9 GNS Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIID, 252940 for gene: GNS
Severe Paediatric Disorders v0.9 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.9 GNPTAB Louise Daugherty Added phenotypes Mucolipidosis III alpha/beta, 252600; Mucolipidosis II alpha/beta, 252500 for gene: GNPTAB
Severe Paediatric Disorders v0.9 GNPAT Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 2, 222765 for gene: GNPAT
Severe Paediatric Disorders v0.9 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.9 GNAS Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
Severe Paediatric Disorders v0.9 GMPPA Louise Daugherty Added phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 for gene: GMPPA
Severe Paediatric Disorders v0.9 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.9 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.9 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GIPC3 Louise Daugherty Added phenotypes Deafness, autosomal recessive 15, 601869 for gene: GIPC3
Severe Paediatric Disorders v0.9 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.9 GFER Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 GDAP1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
Severe Paediatric Disorders v0.9 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 GATA3 Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
Severe Paediatric Disorders v0.9 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.9 GALNT3 Louise Daugherty Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 for gene: GALNT3
Severe Paediatric Disorders v0.9 GALNS Louise Daugherty Added phenotypes Mucopolysaccharidosis IVA, 253000 for gene: GALNS
Severe Paediatric Disorders v0.9 G6PC3 Louise Daugherty Added phenotypes Dursun syndrome, 612541; Neutropenia, severe congenital 4, autosomal recessive, 612541 for gene: G6PC3
Severe Paediatric Disorders v0.9 FZD2 Louise Daugherty Added phenotypes Omodysplasia 2, 164745 for gene: FZD2
Severe Paediatric Disorders v0.9 FYCO1 Louise Daugherty Added phenotypes Cataract 18, autosomal recessive, 610019 for gene: FYCO1
Severe Paediatric Disorders v0.9 FUCA1 Louise Daugherty Added phenotypes Fucosidosis, 230000 for gene: FUCA1
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FOXF1 Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
Severe Paediatric Disorders v0.9 FOXE3 Louise Daugherty Added phenotypes Cataract 34, multiple types, 612968; Anterior segment dysgenesis 2, multiple subtypes, 610256 for gene: FOXE3
Severe Paediatric Disorders v0.9 FOXC2 Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
Severe Paediatric Disorders v0.9 FOXC1 Louise Daugherty Added phenotypes Axenfeld-Rieger syndrome, type 3, 602482; Anterior segment dysgenesis 3, multiple subtypes, 601631 for gene: FOXC1
Severe Paediatric Disorders v0.9 FN1 Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
Severe Paediatric Disorders v0.9 FMN2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 47, 616193 for gene: FMN2
Severe Paediatric Disorders v0.9 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.9 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.9 FKBP10 Louise Daugherty Added phenotypes Bruck syndrome 1, 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FH Louise Daugherty Added phenotypes Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 for gene: FH
Severe Paediatric Disorders v0.9 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.9 FGF3 Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
Severe Paediatric Disorders v0.9 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.9 FGF16 Louise Daugherty Added phenotypes Metacarpal 4-5 fusion, 309630 for gene: FGF16
Severe Paediatric Disorders v0.9 FGF10 Louise Daugherty Added phenotypes LADD syndrome, 149730; Aplasia of lacrimal and salivary glands, 180920 for gene: FGF10
Severe Paediatric Disorders v0.9 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
Severe Paediatric Disorders v0.9 FERMT3 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, type III, 612840 for gene: FERMT3
Severe Paediatric Disorders v0.9 FDX2 Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
Severe Paediatric Disorders v0.9 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.9 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.9 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.9 FAT4 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 for gene: FAT4
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 FAM20A Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 for gene: FAM20A
Severe Paediatric Disorders v0.9 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.9 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 F11 Louise Daugherty Added phenotypes Factor XI deficiency, autosomal recessive, 612416; Factor XI deficiency, autosomal dominant, 612416 for gene: F11
Severe Paediatric Disorders v0.9 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.9 EXT2 Louise Daugherty Added phenotypes Exostoses, multiple, type 2, 133701; Seizures, scoliosis, and macrocephaly syndrome, 616682 for gene: EXT2
Severe Paediatric Disorders v0.9 EXOSC3 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 for gene: EXOSC3
Severe Paediatric Disorders v0.9 EVC2 Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2
Severe Paediatric Disorders v0.9 EVC Louise Daugherty Added phenotypes Ellis-van Creveld syndrome, 225500; ?Weyers acrofacial dysostosis, 193530 for gene: EVC
Severe Paediatric Disorders v0.9 ESRRB Louise Daugherty Added phenotypes Deafness, autosomal recessive 35, 608565 for gene: ESRRB
Severe Paediatric Disorders v0.9 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.9 ERF Louise Daugherty Added phenotypes Chitayat syndrome, 617180; Craniosynostosis 4, 600775 for gene: ERF
Severe Paediatric Disorders v0.9 ERCC8 Louise Daugherty Added phenotypes Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621 for gene: ERCC8
Severe Paediatric Disorders v0.9 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.9 ERCC3 Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
Severe Paediatric Disorders v0.9 ERCC2 Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
Severe Paediatric Disorders v0.9 EPM2A Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 for gene: EPM2A
Severe Paediatric Disorders v0.9 EPB42 Louise Daugherty Added phenotypes Spherocytosis, type 5, 612690 for gene: EPB42
Severe Paediatric Disorders v0.9 EPB41 Louise Daugherty Added phenotypes Elliptocytosis-1, 611804 for gene: EPB41
Severe Paediatric Disorders v0.9 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.9 ENPP1 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 1, 208000; Cole disease, 615522; Hypophosphatemic rickets, autosomal recessive, 2, 613312 for gene: ENPP1
Severe Paediatric Disorders v0.9 ENG Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 for gene: ENG
Severe Paediatric Disorders v0.9 ELP2 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 58, 617270 for gene: ELP2
Severe Paediatric Disorders v0.9 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.9 ELN Louise Daugherty Added phenotypes Cutis laxa, autosomal dominant, 123700; Supravalvar aortic stenosis, 185500 for gene: ELN
Severe Paediatric Disorders v0.9 EIF3F Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 67, 618295 for gene: EIF3F
Severe Paediatric Disorders v0.9 EFTUD2 Louise Daugherty Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 for gene: EFTUD2
Severe Paediatric Disorders v0.9 EFNB1 Louise Daugherty Added phenotypes Craniofrontonasal dysplasia, 304110 for gene: EFNB1
Severe Paediatric Disorders v0.9 EDNRA Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
Severe Paediatric Disorders v0.9 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.9 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.9 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.9 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.9 EBP Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked dominant, 302960; MEND syndrome, 300960 for gene: EBP
Severe Paediatric Disorders v0.9 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.9 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.9 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.9 DYM Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
Severe Paediatric Disorders v0.9 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.9 DOK7 Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
Severe Paediatric Disorders v0.9 DOCK8 Louise Daugherty Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 for gene: DOCK8
Severe Paediatric Disorders v0.9 DNM1L Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
Severe Paediatric Disorders v0.9 DNAJC5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 for gene: DNAJC5
Severe Paediatric Disorders v0.9 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.9 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.9 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.9 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.9 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.9 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.9 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.9 DNA2 Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
Severe Paediatric Disorders v0.9 DLX3 Louise Daugherty Added phenotypes Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510 for gene: DLX3
Severe Paediatric Disorders v0.9 DLL3 Louise Daugherty Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 for gene: DLL3
Severe Paediatric Disorders v0.9 DKC1 Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: DKC1
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.9 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.9 DDR2 Louise Daugherty Added phenotypes Warburg-Cinotti syndrome, 618175; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 for gene: DDR2
Severe Paediatric Disorders v0.9 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.9 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.9 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.9 DCC Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
Severe Paediatric Disorders v0.9 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.9 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.9 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.9 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.9 CYP21A2 Louise Daugherty Added phenotypes Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 for gene: CYP21A2
Severe Paediatric Disorders v0.9 CYP1B1 Louise Daugherty Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315 for gene: CYP1B1
Severe Paediatric Disorders v0.9 CYP11B1 Louise Daugherty Added phenotypes Aldosteronism, glucocorticoid-remediable, 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 for gene: CYP11B1
Severe Paediatric Disorders v0.9 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.9 CWF19L1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 for gene: CWF19L1
Severe Paediatric Disorders v0.9 CTSK Louise Daugherty Added phenotypes Pycnodysostosis, 265800 for gene: CTSK
Severe Paediatric Disorders v0.9 CTSF Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 for gene: CTSF
Severe Paediatric Disorders v0.9 CTSD Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD
Severe Paediatric Disorders v0.9 CTSA Louise Daugherty Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Severe Paediatric Disorders v0.9 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.9 CTNNA2 Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
Severe Paediatric Disorders v0.9 CSTB Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB
Severe Paediatric Disorders v0.9 CSF3R Louise Daugherty Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R
Severe Paediatric Disorders v0.9 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.9 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.9 CRTAP Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VII, 610682 for gene: CRTAP
Severe Paediatric Disorders v0.9 CRB2 Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 COX6A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
Severe Paediatric Disorders v0.9 COMP Louise Daugherty Added phenotypes Pseudoachondroplasia, 177170; Epiphyseal dysplasia, multiple, 1, 132400 for gene: COMP
Severe Paediatric Disorders v0.9 COL9A3 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
Severe Paediatric Disorders v0.9 COL9A2 Louise Daugherty Added phenotypes ?Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2, 600204 for gene: COL9A2
Severe Paediatric Disorders v0.9 COL9A1 Louise Daugherty Added phenotypes Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135 for gene: COL9A1
Severe Paediatric Disorders v0.9 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
Severe Paediatric Disorders v0.9 COL6A2 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
Severe Paediatric Disorders v0.9 COL5A2 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 2, 130010 for gene: COL5A2
Severe Paediatric Disorders v0.9 COL5A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, classic type, 1, 130000 for gene: COL5A1
Severe Paediatric Disorders v0.9 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.9 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 COL17A1 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
Severe Paediatric Disorders v0.9 COL11A2 Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2
Severe Paediatric Disorders v0.9 COL11A1 Louise Daugherty Added phenotypes ?Deafness, autosomal dominant 37, 618533; Marshall syndrome, 154780; Stickler syndrome, type II, 604841; Fibrochondrogenesis 1, 228520 for gene: COL11A1
Severe Paediatric Disorders v0.9 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.9 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.9 COA7 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
Severe Paediatric Disorders v0.9 CNTNAP2 Louise Daugherty Added phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042; Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100 for gene: CNTNAP2
Severe Paediatric Disorders v0.9 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.9 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.9 CLP1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 10, 615803 for gene: CLP1
Severe Paediatric Disorders v0.9 CLN8 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
Severe Paediatric Disorders v0.9 CLN6 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6
Severe Paediatric Disorders v0.9 CLN5 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5
Severe Paediatric Disorders v0.9 CLN3 Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3
Severe Paediatric Disorders v0.9 CLDN14 Louise Daugherty Added phenotypes Deafness, autosomal recessive 29, 614035 for gene: CLDN14
Severe Paediatric Disorders v0.9 CLDN1 Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
Severe Paediatric Disorders v0.9 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.9 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.9 CIT Louise Daugherty Added phenotypes Microcephaly 17, primary, autosomal recessive, 617090 for gene: CIT
Severe Paediatric Disorders v0.9 ICK Louise Daugherty Added phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK
Severe Paediatric Disorders v0.9 CIB2 Louise Daugherty Added phenotypes Usher syndrome, type IJ, 614869; Deafness, autosomal recessive 48, 609439 for gene: CIB2
Severe Paediatric Disorders v0.9 CHST3 Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.9 CHD4 Louise Daugherty Added phenotypes Sifrim-Hitz-Weiss syndrome, 617159 for gene: CHD4
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.9 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.9 CEP152 Louise Daugherty Added phenotypes Microcephaly 9, primary, autosomal recessive, 614852; Seckel syndrome 5, 613823 for gene: CEP152
Severe Paediatric Disorders v0.9 CEP135 Louise Daugherty Added phenotypes Microcephaly 8, primary, autosomal recessive, 614673 for gene: CEP135
Severe Paediatric Disorders v0.9 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.9 CENPJ Louise Daugherty Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393; ?Seckel syndrome 4, 613676 for gene: CENPJ
Severe Paediatric Disorders v0.9 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.9 CDK5RAP2 Louise Daugherty Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2
Severe Paediatric Disorders v0.9 CDK10 Louise Daugherty Added phenotypes Al Kaissi syndrome, 617694 for gene: CDK10
Severe Paediatric Disorders v0.9 CDH3 Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
Severe Paediatric Disorders v0.9 CDH23 Louise Daugherty Added phenotypes Usher syndrome, type 1D, 601067; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 12, 601386 for gene: CDH23
Severe Paediatric Disorders v0.9 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.9 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.9 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.9 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.9 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.9 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.9 CCBE1 Louise Daugherty Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 for gene: CCBE1
Severe Paediatric Disorders v0.9 CC2D1A Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 3, 608443 for gene: CC2D1A
Severe Paediatric Disorders v0.9 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.9 CASK Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
Severe Paediatric Disorders v0.9 CARD9 Louise Daugherty Added phenotypes Candidiasis, familial, 2, autosomal recessive, 212050 for gene: CARD9
Severe Paediatric Disorders v0.9 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.9 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.9 CAPN3 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3
Severe Paediatric Disorders v0.9 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.9 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.9 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.9 CACNA1S Louise Daugherty Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 CACNA1A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
Severe Paediatric Disorders v0.9 CA2 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 C12orf4 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 66, 618221 for gene: C12orf4
Severe Paediatric Disorders v0.9 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.9 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.9 BMPR1B Louise Daugherty Added phenotypes Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A2, 112600; Brachydactyly, type A1, D, 616849 for gene: BMPR1B
Severe Paediatric Disorders v0.9 BMPR1A Louise Daugherty Added phenotypes Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Polyposis, juvenile intestinal, 174900 for gene: BMPR1A
Severe Paediatric Disorders v0.9 BMPER Louise Daugherty Added phenotypes Diaphanospondylodysostosis, 608022 for gene: BMPER
Severe Paediatric Disorders v0.9 BMP1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Severe Paediatric Disorders v0.9 BGN Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN
Severe Paediatric Disorders v0.9 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.9 B3GALT6 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
Severe Paediatric Disorders v0.9 B2M Louise Daugherty Added phenotypes ?Amyloidosis, familial visceral; Immunodeficiency 43, 241600 for gene: B2M
Severe Paediatric Disorders v0.9 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.9 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.9 ATP6V1B1 Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
Severe Paediatric Disorders v0.9 ATP6V1A Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
Severe Paediatric Disorders v0.9 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.9 ATP1A2 Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481 for gene: ATP1A2
Severe Paediatric Disorders v0.9 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.9 ATN1 Louise Daugherty Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1
Severe Paediatric Disorders v0.9 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 208900 for gene: ATM
Severe Paediatric Disorders v0.9 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.9 ASPM Louise Daugherty Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 for gene: ASPM
Severe Paediatric Disorders v0.9 ASAH1 Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
Severe Paediatric Disorders v0.9 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.9 ARSB Louise Daugherty Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 for gene: ARSB
Severe Paediatric Disorders v0.9 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.9 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.9 ARID2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 6, 617808 for gene: ARID2
Severe Paediatric Disorders v0.9 ARID1B Louise Daugherty Added phenotypes Coffin-Siris syndrome 1, 135900 for gene: ARID1B
Severe Paediatric Disorders v0.9 ARID1A Louise Daugherty Added phenotypes Coffin-Siris syndrome 2, 614607 for gene: ARID1A
Severe Paediatric Disorders v0.9 AR Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
Severe Paediatric Disorders v0.9 APOA1 Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.9 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.9 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.9 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.9 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.9 ANTXR2 Louise Daugherty Added phenotypes Hyaline fibromatosis syndrome, 228600 for gene: ANTXR2
Severe Paediatric Disorders v0.9 ANO5 Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
Severe Paediatric Disorders v0.9 ANO10 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 for gene: ANO10
Severe Paediatric Disorders v0.9 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKH Louise Daugherty Added phenotypes Craniometaphyseal dysplasia, 123000; Chondrocalcinosis 2, 118600 for gene: ANKH
Severe Paediatric Disorders v0.9 ANK1 Louise Daugherty Added phenotypes Spherocytosis, type 1, 182900 for gene: ANK1
Severe Paediatric Disorders v0.9 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
Severe Paediatric Disorders v0.9 AMELX Louise Daugherty Added phenotypes Amelogenesis imperfecta, type 1E, 301200 for gene: AMELX
Severe Paediatric Disorders v0.9 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.9 ALX4 Louise Daugherty Added phenotypes Parietal foramina 2, 609597; Frontonasal dysplasia 2, 613451 for gene: ALX4
Severe Paediatric Disorders v0.9 ALX3 Louise Daugherty Added phenotypes Frontonasal dysplasia 1, 136760 for gene: ALX3
Severe Paediatric Disorders v0.9 ALX1 Louise Daugherty Added phenotypes ?Frontonasal dysplasia 3, 613456 for gene: ALX1
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALPL Louise Daugherty Added phenotypes Hypophosphatasia, childhood, 241510; Hypophosphatasia, adult, 146300; Hypophosphatasia, infantile, 241500; Odontohypophosphatasia, 146300 for gene: ALPL
Severe Paediatric Disorders v0.9 ALOXE3 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
Severe Paediatric Disorders v0.9 ALOX12B Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
Severe Paediatric Disorders v0.9 ALKBH8 Louise Daugherty Added phenotypes Intellectual developmental disorder, autosomal recessive 71, 618504 for gene: ALKBH8
Severe Paediatric Disorders v0.9 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 AKR1D1 Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
Severe Paediatric Disorders v0.9 AK2 Louise Daugherty Added phenotypes Reticular dysgenesis, 267500 for gene: AK2
Severe Paediatric Disorders v0.9 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.9 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.9 AGTR1 Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGTR1
Severe Paediatric Disorders v0.9 AGT Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: AGT
Severe Paediatric Disorders v0.9 AGPS Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 for gene: AGPS
Severe Paediatric Disorders v0.9 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.9 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.9 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAT3 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 36, 615286 for gene: ADAT3
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTSL2 Louise Daugherty Added phenotypes Geleophysic dysplasia 1, 231050 for gene: ADAMTSL2
Severe Paediatric Disorders v0.9 ADAMTS17 Louise Daugherty Added phenotypes Weill-Marchesani 4 syndrome, recessive, 613195 for gene: ADAMTS17
Severe Paediatric Disorders v0.9 ADAMTS10 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 1, recessive, 277600 for gene: ADAMTS10
Severe Paediatric Disorders v0.9 ADA Louise Daugherty Added phenotypes Adenosine deaminase deficiency, partial, 102700; Severe combined immunodeficiency due to ADA deficiency, 102700 for gene: ADA
Severe Paediatric Disorders v0.9 ACVRL1 Louise Daugherty Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 for gene: ACVRL1
Severe Paediatric Disorders v0.9 ACVR1 Louise Daugherty Added phenotypes Fibrodysplasia ossificans progressiva, 135100 for gene: ACVR1
Severe Paediatric Disorders v0.9 ACTN4 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 1, 603278 for gene: ACTN4
Severe Paediatric Disorders v0.9 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.9 ABCG8 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG8
Severe Paediatric Disorders v0.9 ABCG5 Louise Daugherty Added phenotypes Sitosterolemia, 210250 for gene: ABCG5
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Severe Paediatric Disorders v0.9 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.9 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.9 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.9 AASS Louise Daugherty Added phenotypes Hyperlysinemia, 238700; Saccharopinuria, 268700 for gene: AASS
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.9 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.8 VPS35 Louise Daugherty Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
Severe Paediatric Disorders v0.8 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.8 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.8 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.8 NRXN3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
Severe Paediatric Disorders v0.8 NFAT5 Louise Daugherty Added phenotypes Adenomas, multiple colorectal, 608456; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Added phenotypes Lipoma, somatic; Adrenal adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Parathyroid adenoma, somatic; Carcinoid tumor of lung; Angiofibroma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Rheumatoid arthritis, progression of}, 180300; {Graft-versus-host disease, protection against}, 614395 for gene: IL17A
Severe Paediatric Disorders v0.8 UNC119 Louise Daugherty Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
Severe Paediatric Disorders v0.8 SNAP25 Louise Daugherty Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
Severe Paediatric Disorders v0.8 SLC18A2 Louise Daugherty Added phenotypes ?Amyotrophic lateral sclerosis 16, juvenile, 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 for gene: SLC18A2
Severe Paediatric Disorders v0.8 SIGMAR1 Louise Daugherty Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
Severe Paediatric Disorders v0.8 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.8 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 for gene: RHOH
Severe Paediatric Disorders v0.8 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.8 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.8 PEX11B Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Severe Paediatric Disorders v0.8 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.8 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.8 IL17F Louise Daugherty Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
Severe Paediatric Disorders v0.8 HYAL1 Louise Daugherty Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
Severe Paediatric Disorders v0.8 FRMD4A Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
Severe Paediatric Disorders v0.8 APOL1 Louise Daugherty Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
Severe Paediatric Disorders v0.8 ACD Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
Severe Paediatric Disorders v0.8 ZSWIM6 Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
Severe Paediatric Disorders v0.8 ZMPSTE24 Louise Daugherty Added phenotypes Restrictive dermopathy, lethal, 275210; Mandibuloacral dysplasia with type B lipodystrophy, 608612 for gene: ZMPSTE24
Severe Paediatric Disorders v0.8 ZIC1 Louise Daugherty Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
Severe Paediatric Disorders v0.8 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.8 ZFP57 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Severe Paediatric Disorders v0.8 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2