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Severe Paediatric Disorders v0.12 AFF2 Louise Daugherty reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADSL Louise Daugherty reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 ADNP Louise Daugherty reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADK Louise Daugherty reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRV1 Louise Daugherty reviewed gene: ADGRV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRG6 Louise Daugherty reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRG1 Louise Daugherty reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADD3 Louise Daugherty reviewed gene: ADD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAT3 Louise Daugherty reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTSL2 Louise Daugherty reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS17 Louise Daugherty reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS10 Louise Daugherty reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA2 Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA Louise Daugherty reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACY1 Louise Daugherty reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVR2B Louise Daugherty reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVR1 Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTN4 Louise Daugherty reviewed gene: ACTN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTN1 Louise Daugherty reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTL6B Louise Daugherty reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG2 Louise Daugherty reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG1 Louise Daugherty reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTC1 Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACSL4 Louise Daugherty reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACSF3 Louise Daugherty reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACP5 Louise Daugherty reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACOX1 Louise Daugherty reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACO2 Louise Daugherty reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACE Louise Daugherty reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAT1 Louise Daugherty reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAN Louise Daugherty reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADVL Louise Daugherty reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADSB Louise Daugherty reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADS Louise Daugherty reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADM Louise Daugherty reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAD9 Louise Daugherty reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAD8 Louise Daugherty reviewed gene: ACAD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABL1 Louise Daugherty reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABHD5 Louise Daugherty reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCG5 Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCD4 Louise Daugherty reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC9 Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC8 Louise Daugherty reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC6 Louise Daugherty reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC2 Louise Daugherty reviewed gene: ABCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB4 Louise Daugherty reviewed gene: ABCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB11 Louise Daugherty reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA4 Louise Daugherty reviewed gene: ABCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA3 Louise Daugherty reviewed gene: ABCA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA12 Louise Daugherty reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA1 Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABAT Louise Daugherty reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AASS Louise Daugherty reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AARS2 Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.12 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 THRB Louise Daugherty Publications for gene THRB were updated from to 30847515
Severe Paediatric Disorders v0.11 THRA Louise Daugherty Publications for gene THRA were updated from to 30847515
Severe Paediatric Disorders v0.11 THPO Louise Daugherty Publications for gene THPO were updated from to 30847515
Severe Paediatric Disorders v0.11 THOC6 Louise Daugherty Publications for gene THOC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 THOC2 Louise Daugherty Publications for gene THOC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 THBD Louise Daugherty Publications for gene THBD were updated from to 30847515
Severe Paediatric Disorders v0.11 THAP1 Louise Daugherty Publications for gene THAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TH Louise Daugherty Publications for gene TH were updated from to 30847515
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Publications for gene PTHLH were updated from to 30847515
Severe Paediatric Disorders v0.11 PTH1R Louise Daugherty Publications for gene PTH1R were updated from to 30847515
Severe Paediatric Disorders v0.11 MTHFR Louise Daugherty Publications for gene MTHFR were updated from to 30847515
Severe Paediatric Disorders v0.11 MTHFD1 Louise Daugherty Publications for gene MTHFD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TH Louise Daugherty Publications for gene MT-TH were updated from to 30847515
Severe Paediatric Disorders v0.11 ETHE1 Louise Daugherty Publications for gene ETHE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CTH Louise Daugherty Publications for gene CTH were updated from to 30847515
Severe Paediatric Disorders v0.11 RRM2B Louise Daugherty Mode of inheritance for gene RRM2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPS6KA3 Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RPGRIP1 Louise Daugherty Mode of inheritance for gene RPGRIP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ROR2 Louise Daugherty Mode of inheritance for gene ROR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RLIM Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 REN Louise Daugherty Mode of inheritance for gene REN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RBBP8 Louise Daugherty Mode of inheritance for gene RBBP8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RARB Louise Daugherty Mode of inheritance for gene RARB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAPSN Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAG1 Louise Daugherty Mode of inheritance for gene RAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAF1 Louise Daugherty Mode of inheritance for gene RAF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAD21 Louise Daugherty Mode of inheritance for gene RAD21 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PYCR1 Louise Daugherty Mode of inheritance for gene PYCR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Mode of inheritance for gene PTHLH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTH1R Louise Daugherty Mode of inheritance for gene PTH1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PSAP Louise Daugherty Mode of inheritance for gene PSAP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRX Louise Daugherty Mode of inheritance for gene PRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PROS1 Louise Daugherty Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PROC Louise Daugherty Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POU1F1 Louise Daugherty Mode of inheritance for gene POU1F1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 POR Louise Daugherty Mode of inheritance for gene POR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR1D Louise Daugherty Mode of inheritance for gene POLR1D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLG2 Louise Daugherty Mode of inheritance for gene POLG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLG Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PMP22 Louise Daugherty Mode of inheritance for gene PMP22 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLS3 Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PLEC Louise Daugherty Mode of inheritance for gene PLEC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PKLR Louise Daugherty Mode of inheritance for gene PKLR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PITX3 Louise Daugherty Mode of inheritance for gene PITX3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIK3R1 Louise Daugherty Mode of inheritance for gene PIK3R1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGT Louise Daugherty Mode of inheritance for gene PIGT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIEZO2 Louise Daugherty Mode of inheritance for gene PIEZO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIEZO1 Louise Daugherty Mode of inheritance for gene PIEZO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHOX2B Louise Daugherty Mode of inheritance for gene PHOX2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHKG2 Louise Daugherty Mode of inheritance for gene PHKG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHEX Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PEX6 Louise Daugherty Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDHA1 Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PDGFB Louise Daugherty Mode of inheritance for gene PDGFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDE10A Louise Daugherty Mode of inheritance for gene PDE10A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PAX6 Louise Daugherty Mode of inheritance for gene PAX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PARN Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PALB2 Louise Daugherty Mode of inheritance for gene PALB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ORAI1 Louise Daugherty Mode of inheritance for gene ORAI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OPA3 Louise Daugherty Mode of inheritance for gene OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OPA1 Louise Daugherty Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NUS1 Louise Daugherty Mode of inheritance for gene NUS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NTRK1 Louise Daugherty Mode of inheritance for gene NTRK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NSDHL Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NPR2 Louise Daugherty Mode of inheritance for gene NPR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NONO Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NLGN3 Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NKX2-5 Louise Daugherty Mode of inheritance for gene NKX2-5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NHS Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NEXMIF Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NEK8 Louise Daugherty Mode of inheritance for gene NEK8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEFL Louise Daugherty Mode of inheritance for gene NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NALCN Louise Daugherty Mode of inheritance for gene NALCN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAGLU Louise Daugherty Mode of inheritance for gene NAGLU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAA10 Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MYO7A Louise Daugherty Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO6 Louise Daugherty Mode of inheritance for gene MYO6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH8 Louise Daugherty Mode of inheritance for gene MYH8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH7 Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH3 Louise Daugherty Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH2 Louise Daugherty Mode of inheritance for gene MYH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYBPC1 Louise Daugherty Mode of inheritance for gene MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MVK Louise Daugherty Mode of inheritance for gene MVK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTHFR Louise Daugherty Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTHFD1 Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSX1 Louise Daugherty Mode of inheritance for gene MSX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSTO1 Louise Daugherty Mode of inheritance for gene MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSL3 Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MSH6 Louise Daugherty Mode of inheritance for gene MSH6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPZ Louise Daugherty Mode of inheritance for gene MPZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPL Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMP13 Louise Daugherty Mode of inheritance for gene MMP13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 MIPEP Louise Daugherty Deleted their review
Severe Paediatric Disorders v0.10 MIPEP Louise Daugherty reviewed gene: MIPEP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 TRAF3IP2 Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
Severe Paediatric Disorders v0.10 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.10 RPS15 Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
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 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.10 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
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 TSEN34 Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
Severe Paediatric Disorders v0.10 TPM4 Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
Severe Paediatric Disorders v0.10 SEMA3E Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
Severe Paediatric Disorders v0.10 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.10 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.10 KCNT2 Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
Severe Paediatric Disorders v0.10 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
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 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
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 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
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 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.10 YWHAG Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
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 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.10 XDH Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
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 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
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 WDR81 Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
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 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.10 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.10 WDR4 Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
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 WDR11 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
Severe Paediatric Disorders v0.10 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.10 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
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 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
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 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 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 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 VARS Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Severe Paediatric Disorders v0.10 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.10 USB1 Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
Severe Paediatric Disorders v0.10 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.10 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.10 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.10 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.10 UNC80 Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
Severe Paediatric Disorders v0.10 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.10 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.10 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
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 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 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 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 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
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 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
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 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 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.10 TSHB Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
Severe Paediatric Disorders v0.10 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
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 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 TRIP4 Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
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 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.10 TRAK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
Severe Paediatric Disorders v0.10 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
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 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
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 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.10 TNNT1 Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
Severe Paediatric Disorders v0.10 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.10 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.10 TMEM70 Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
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 TLR3 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
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 TIMM50 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
Severe Paediatric Disorders v0.10 TICAM1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
Severe Paediatric Disorders v0.10 TIA1 Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
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 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.10 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.10 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.10 THOC2 Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
Severe Paediatric Disorders v0.10 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
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 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.10 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
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 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
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 TCF4 Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
Severe Paediatric Disorders v0.10 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
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 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 TBR1 Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
Severe Paediatric Disorders v0.10 TBCK Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
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 TAZ Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
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 SZT2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
Severe Paediatric Disorders v0.10 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
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 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.10 SUZ12 Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
Severe Paediatric Disorders v0.10 SURF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Severe Paediatric Disorders v0.10 SUCLG1 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Severe Paediatric Disorders v0.10 SUCLA2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Severe Paediatric Disorders v0.10 STXBP1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
Severe Paediatric Disorders v0.10 STX1B Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
Severe Paediatric Disorders v0.10 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.10 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.10 TMEM173 Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
Severe Paediatric Disorders v0.10 STIM1 Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
Severe Paediatric Disorders v0.10 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.10 STAC3 Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
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 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
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 SPTLC2 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Severe Paediatric Disorders v0.10 SPTLC1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
Severe Paediatric Disorders v0.10 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.10 SPTAN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
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 SPINK5 Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
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 SPEG Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
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 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
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 SOX10 Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
Severe Paediatric Disorders v0.10 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
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 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.10 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.10 SMARCD1 Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
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 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.10 SLC5A7 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
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 SLC39A4 Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
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 SLC34A3 Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
Severe Paediatric Disorders v0.10 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.10 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
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 SLC25A46 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
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 SLC25A22 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
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 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.10 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.10 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.10 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
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 SLC1A2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
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 SLC18A3 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
Severe Paediatric Disorders v0.10 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.10 SLC13A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
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 SLC12A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
Severe Paediatric Disorders v0.10 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
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 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
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 SHOC2 Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
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 SH3TC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
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 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 SERAC1 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Severe Paediatric Disorders v0.10 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.10 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.10 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.10 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.10 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.10 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
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 SCN8A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
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 SCN3A Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
Severe Paediatric Disorders v0.10 SCN2A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
Severe Paediatric Disorders v0.10 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.10 SCN1A Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
Severe Paediatric Disorders v0.10 SCN11A Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
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 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.10 SBF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
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 RYR1 Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
Severe Paediatric Disorders v0.10 TMEM5 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
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 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.10 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.10 RTN4IP1 Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
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 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 RORB Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
Severe Paediatric Disorders v0.10 RORA Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
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 RNASET2 Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
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 RHOBTB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
Severe Paediatric Disorders v0.10 RETREG1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
Severe Paediatric Disorders v0.10 RERE Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
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 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.10 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.10 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.10 RBCK1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
Severe Paediatric Disorders v0.10 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.10 RARB Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
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 RAI1 Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
Severe Paediatric Disorders v0.10 RAG2 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
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 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.10 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.10 RAB7A Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Severe Paediatric Disorders v0.10 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.10 RAB11B Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
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 PUS7 Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
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 PTPN23 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
Severe Paediatric Disorders v0.10 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
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 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
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 PRX Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
Severe Paediatric Disorders v0.10 PRUNE1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
Severe Paediatric Disorders v0.10 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
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 PROKR2 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
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 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.10 PRKDC Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
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 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.10 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.10 PRDM12 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
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 PPP2CA Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
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 PPP1CB Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
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 POMT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
Severe Paediatric Disorders v0.10 POMT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
Severe Paediatric Disorders v0.10 POMK Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
Severe Paediatric Disorders v0.10 POMGNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
Severe Paediatric Disorders v0.10 POMGNT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
Severe Paediatric Disorders v0.10 POLR3B Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
Severe Paediatric Disorders v0.10 POLR3A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
Severe Paediatric Disorders v0.10 POLR2A Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
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 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 PLCB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
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 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
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 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.10 PITX1 Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
Severe Paediatric Disorders v0.10 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
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 PIGQ Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
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 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.10 PIGB Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
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 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.10 PHACTR1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
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 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 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.10 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.10 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
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 PARS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
Severe Paediatric Disorders v0.10 PAPSS2 Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
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 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.10 PACS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
Severe Paediatric Disorders v0.10 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.10 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
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 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.10 ORAI1 Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
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 OPA3 Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Severe Paediatric Disorders v0.10 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.10 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.10 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
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 NPRL3 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
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 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 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.10 NLRC4 Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
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 NKX2-5 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
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 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 NFIX Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
Severe Paediatric Disorders v0.10 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.10 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
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 NEFL Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
Severe Paediatric Disorders v0.10 NEFH Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
Severe Paediatric Disorders v0.10 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.10 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.10 NDRG1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
Severe Paediatric Disorders v0.10 NDP Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
Severe Paediatric Disorders v0.10 NDE1 Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
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 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.10 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
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 NACC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
Severe Paediatric Disorders v0.10 NAA10 Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
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 MYOT Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
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 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 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
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 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
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 MYH2 Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
Severe Paediatric Disorders v0.10 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
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 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 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.10 MTMR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
Severe Paediatric Disorders v0.10 MTM1 Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Severe Paediatric Disorders v0.10 MTHFR Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
Severe Paediatric Disorders v0.10 MTHFD1 Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
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-TW Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
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-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.10 MT-TR Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
Severe Paediatric Disorders v0.10 MT-TQ Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
Severe Paediatric Disorders v0.10 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.10 MT-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.10 MT-TM Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
Severe Paediatric Disorders v0.10 MT-TL2 Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
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-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
Severe Paediatric Disorders v0.10 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.10 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.10 MT-TA Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
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-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-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 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 MSTO1 Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
Severe Paediatric Disorders v0.10 MPZ Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
Severe Paediatric Disorders v0.10 MPV17 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Severe Paediatric Disorders v0.10 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.10 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.10 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.10 MORC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
Severe Paediatric Disorders v0.10 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.10 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.10 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.10 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
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 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
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 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.10 MFN2 Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
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 MEGF10 Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
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 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.10 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
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 MDH2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
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 MCEE Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
Severe Paediatric Disorders v0.10 MCCC2 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
Severe Paediatric Disorders v0.10 MCCC1 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
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 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 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 MAPK8IP3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
Severe Paediatric Disorders v0.10 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
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 MACF1 Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
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 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 LRSAM1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
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 LRBA Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
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 LMOD3 Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
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 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.10 LMBR1 Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
Severe Paediatric Disorders v0.10 LITAF Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
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 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
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 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
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 LARGE1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
Severe Paediatric Disorders v0.10 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
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 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 KRIT1 Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
Severe Paediatric Disorders v0.10 KLHL41 Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
Severe Paediatric Disorders v0.10 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.10 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
Severe Paediatric Disorders v0.10 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
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 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
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 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 KIF11 Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
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 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.10 KCTD3 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
Severe Paediatric Disorders v0.10 KCNT1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
Severe Paediatric Disorders v0.10 KCNQ2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
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 KCNB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
Severe Paediatric Disorders v0.10 KCNA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
Severe Paediatric Disorders v0.10 KBTBD13 Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
Severe Paediatric Disorders v0.10 KATNB1 Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
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 JPH2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
Severe Paediatric Disorders v0.10 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
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 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.10 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.10 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.10 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
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 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 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
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 INPP5K Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
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 IL2RA Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
Severe Paediatric Disorders v0.10 IGSF1 Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
Severe Paediatric Disorders v0.10 IGHMBP2 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
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 IGF1 Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
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 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 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.10 HYLS1 Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
Severe Paediatric Disorders v0.10 HTRA2 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
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 HSPB8 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
Severe Paediatric Disorders v0.10 HSPB1 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.10 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
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 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 HNRNPU Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
Severe Paediatric Disorders v0.10 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.10 HMGCS2 Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
Severe Paediatric Disorders v0.10 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.10 HLCS Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
Severe Paediatric Disorders v0.10 HK1 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
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 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 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.10 HECW2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
Severe Paediatric Disorders v0.10 HCN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
Severe Paediatric Disorders v0.10 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.10 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
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 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
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 GYG1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
Severe Paediatric Disorders v0.10 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.10 GSS Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
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 GRIN2D Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
Severe Paediatric Disorders v0.10 GRIN2B Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
Severe Paediatric Disorders v0.10 GRIN2A Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
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 GRIA4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
Severe Paediatric Disorders v0.10 GRIA2 Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
Severe Paediatric Disorders v0.10 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.10 GNMT Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
Severe Paediatric Disorders v0.10 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.10 GNB5 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
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 GNAO1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Severe Paediatric Disorders v0.10 GMPPB Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
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 GLIS3 Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
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 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.10 GLDC Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
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 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
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 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.10 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.10 GFPT1 Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
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 GCLC Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
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 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.10 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
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 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.10 GARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
Severe Paediatric Disorders v0.10 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.10 GALK1 Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
Severe Paediatric Disorders v0.10 GABRG2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
Severe Paediatric Disorders v0.10 GABRB3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
Severe Paediatric Disorders v0.10 GABRB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
Severe Paediatric Disorders v0.10 GABRA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
Severe Paediatric Disorders v0.10 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.10 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.10 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.10 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.10 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
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 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.10 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.10 FREM1 Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
Severe Paediatric Disorders v0.10 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.10 FOXP1 Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
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 FOXE1 Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
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 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 FMO3 Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
Severe Paediatric Disorders v0.10 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.10 FLVCR1 Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Severe Paediatric Disorders v0.10 FLNC Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
Severe Paediatric Disorders v0.10 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.10 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.10 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.10 FKRP Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
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 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
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 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
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 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.10 FGD4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
Severe Paediatric Disorders v0.10 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.10 FDXR Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
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 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.10 FBXL4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
Severe Paediatric Disorders v0.10 FBXL3 Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
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 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.10 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.10 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.10 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.10 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.10 EYA1 Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Severe Paediatric Disorders v0.10 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.10 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.10 ETHE1 Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
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 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 EIF4A3 Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
Severe Paediatric Disorders v0.10 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.10 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.10 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.10 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.10 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.10 EGR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
Severe Paediatric Disorders v0.10 EEF1A2 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
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 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 DYNC1H1 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
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 DPM3 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Severe Paediatric Disorders v0.10 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.10 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
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 DOCK7 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
Severe Paediatric Disorders v0.10 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.10 DNMT1 Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
Severe Paediatric Disorders v0.10 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
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 DNM1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
Severe Paediatric Disorders v0.10 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.10 DNAJC19 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
Severe Paediatric Disorders v0.10 DNAJB11 Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
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 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 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 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.10 DLX5 Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
Severe Paediatric Disorders v0.10 DLG4 Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
Severe Paediatric Disorders v0.10 DHX30 Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
Severe Paediatric Disorders v0.10 DHTKD1 Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
Severe Paediatric Disorders v0.10 DHPS Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
Severe Paediatric Disorders v0.10 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.10 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
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 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.10 DEPDC5 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
Severe Paediatric Disorders v0.10 DENND5A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
Severe Paediatric Disorders v0.10 DCTN1 Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
Severe Paediatric Disorders v0.10 DCLRE1C Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
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 DARS2 Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
Severe Paediatric Disorders v0.10 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.10 DAG1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
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 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.10 CYP11A1 Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
Severe Paediatric Disorders v0.10 CYFIP2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
Severe Paediatric Disorders v0.10 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.10 CYB5R3 Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
Severe Paediatric Disorders v0.10 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
Severe Paediatric Disorders v0.10 CWC27 Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
Severe Paediatric Disorders v0.10 CUX2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
Severe Paediatric Disorders v0.10 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
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 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
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 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.10 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.10 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.10 CTBP1 Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
Severe Paediatric Disorders v0.10 CSNK2B Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.10 ISPD Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
Severe Paediatric Disorders v0.10 CRIPT Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
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 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.10 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.10 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.10 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
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 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.10 COLQ Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
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 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 COL6A3 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
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 COL6A1 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
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 COL3A1 Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
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 COL13A1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
Severe Paediatric Disorders v0.10 COL12A1 Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
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 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.10 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.10 CNPY3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
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 CLPB Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
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 CLDN19 Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
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 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 CLCN2 Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
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 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.10 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.10 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.10 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.10 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.10 CHD8 Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
Severe Paediatric Disorders v0.10 CHD7 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
Severe Paediatric Disorders v0.10 CHD2 Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
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 CHAT Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
Severe Paediatric Disorders v0.10 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.10 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.10 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
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 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.10 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
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 CDKN1C Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
Severe Paediatric Disorders v0.10 CDKL5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
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 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.10 CD59 Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
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 CD40LG Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
Severe Paediatric Disorders v0.10 CD40 Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
Severe Paediatric Disorders v0.10 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
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 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.10 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.10 CAV3 Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
Severe Paediatric Disorders v0.10 CASR Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
Severe Paediatric Disorders v0.10 CASQ1 Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
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 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 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.10 CAD Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
Severe Paediatric Disorders v0.10 CACNA1G Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
Severe Paediatric Disorders v0.10 CACNA1E Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
Severe Paediatric Disorders v0.10 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.10 CACNA1B Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
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 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
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 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 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.10 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.10 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
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 BRAT1 Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
Severe Paediatric Disorders v0.10 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.10 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.10 BMP4 Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
Severe Paediatric Disorders v0.10 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.10 BIN1 Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
Severe Paediatric Disorders v0.10 BHLHA9 Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
Severe Paediatric Disorders v0.10 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.10 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.10 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.10 B4GAT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
Severe Paediatric Disorders v0.10 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
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 B3GALNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
Severe Paediatric Disorders v0.10 AUH Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Severe Paediatric Disorders v0.10 ATRX Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
Severe Paediatric Disorders v0.10 ATP6V1B2 Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
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 ATP5D Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
Severe Paediatric Disorders v0.10 ATP2A1 Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Severe Paediatric Disorders v0.10 ATP1A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
Severe Paediatric Disorders v0.10 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.10 ASNS Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
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 ARX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
Severe Paediatric Disorders v0.10 ARV1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
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 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.10 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.10 ARCN1 Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
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 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.10 APOE Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
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 AP3B2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
Severe Paediatric Disorders v0.10 AP2M1 Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
Severe Paediatric Disorders v0.10 ANOS1 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
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 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.10 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.10 AMT Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
Severe Paediatric Disorders v0.10 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
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 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 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.10 ALG13 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
Severe Paediatric Disorders v0.10 ALDH6A1 Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
Severe Paediatric Disorders v0.10 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.10 ALB Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
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 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 AICDA Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
Severe Paediatric Disorders v0.10 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.10 ADPRHL2 Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
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 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.10 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.10 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.10 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.10 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.10 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.10 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
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 ACSF3 Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
Severe Paediatric Disorders v0.10 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.10 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
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 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.10 ABHD12 Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
Severe Paediatric Disorders v0.10 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.10 ABCD1 Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
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 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.10 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
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 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 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.9 TRAF3IP2 Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 RPS15 Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
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 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.9 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
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 TSEN34 Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
Severe Paediatric Disorders v0.9 TPM4 Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
Severe Paediatric Disorders v0.9 SEMA3E Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.9 KCNT2 Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
Severe Paediatric Disorders v0.9 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
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 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
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 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
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 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.9 YWHAG Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
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 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.9 XDH Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
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 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
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 WDR81 Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
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 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.9 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.9 WDR4 Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
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 WDR11 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
Severe Paediatric Disorders v0.9 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
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 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
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 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 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 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 VARS Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Severe Paediatric Disorders v0.9 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.9 USB1 Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.9 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.9 UNC80 Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
Severe Paediatric Disorders v0.9 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.9 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.9 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
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 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 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 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 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
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 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
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 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 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.9 TSHB Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
Severe Paediatric Disorders v0.9 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
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 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 TRIP4 Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
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 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TRAK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
Severe Paediatric Disorders v0.9 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
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 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
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 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNT1 Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.9 TMEM70 Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
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 TLR3 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
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 TIMM50 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
Severe Paediatric Disorders v0.9 TICAM1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
Severe Paediatric Disorders v0.9 TIA1 Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
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 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.9 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.9 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.9 THOC2 Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
Severe Paediatric Disorders v0.9 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
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 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
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 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
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 TCF4 Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
Severe Paediatric Disorders v0.9 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
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 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 TBR1 Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
Severe Paediatric Disorders v0.9 TBCK Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
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 TAZ Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
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 SZT2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
Severe Paediatric Disorders v0.9 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
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 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.9 SUZ12 Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
Severe Paediatric Disorders v0.9 SURF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Severe Paediatric Disorders v0.9 SUCLG1 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Severe Paediatric Disorders v0.9 SUCLA2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Severe Paediatric Disorders v0.9 STXBP1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
Severe Paediatric Disorders v0.9 STX1B Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.9 TMEM173 Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
Severe Paediatric Disorders v0.9 STIM1 Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
Severe Paediatric Disorders v0.9 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.9 STAC3 Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
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 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
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 SPTLC2 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Severe Paediatric Disorders v0.9 SPTLC1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
Severe Paediatric Disorders v0.9 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.9 SPTAN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
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 SPINK5 Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
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 SPEG Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
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 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
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 SOX10 Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
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 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.9 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.9 SMARCD1 Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
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 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.9 SLC5A7 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
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 SLC39A4 Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
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 SLC34A3 Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
Severe Paediatric Disorders v0.9 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.9 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
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 SLC25A46 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
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 SLC25A22 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
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 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.9 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.9 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.9 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
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 SLC1A2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
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 SLC18A3 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SLC13A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
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 SLC12A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
Severe Paediatric Disorders v0.9 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
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 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
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 SHOC2 Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
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 SH3TC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
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 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 SERAC1 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Severe Paediatric Disorders v0.9 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.9 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.9 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
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 SCN8A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
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 SCN3A Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
Severe Paediatric Disorders v0.9 SCN2A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 SCN1A Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
Severe Paediatric Disorders v0.9 SCN11A Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
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 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.9 SBF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
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 RYR1 Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
Severe Paediatric Disorders v0.9 TMEM5 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
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 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.9 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.9 RTN4IP1 Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
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 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 RORB Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
Severe Paediatric Disorders v0.9 RORA Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
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 RNASET2 Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
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 RHOBTB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
Severe Paediatric Disorders v0.9 RETREG1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
Severe Paediatric Disorders v0.9 RERE Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
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 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.9 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.9 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.9 RBCK1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 RARB Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
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 RAI1 Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
Severe Paediatric Disorders v0.9 RAG2 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
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 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.9 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.9 RAB7A Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Severe Paediatric Disorders v0.9 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.9 RAB11B Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
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 PUS7 Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
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 PTPN23 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
Severe Paediatric Disorders v0.9 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
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 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
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 PRX Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
Severe Paediatric Disorders v0.9 PRUNE1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
Severe Paediatric Disorders v0.9 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
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 PROKR2 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
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 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.9 PRKDC Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
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 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.9 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.9 PRDM12 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
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 PPP2CA Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
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 PPP1CB Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
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 POMT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
Severe Paediatric Disorders v0.9 POMT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
Severe Paediatric Disorders v0.9 POMK Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
Severe Paediatric Disorders v0.9 POMGNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
Severe Paediatric Disorders v0.9 POMGNT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
Severe Paediatric Disorders v0.9 POLR3B Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
Severe Paediatric Disorders v0.9 POLR3A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
Severe Paediatric Disorders v0.9 POLR2A Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
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 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 PLCB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
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 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
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 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.9 PITX1 Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
Severe Paediatric Disorders v0.9 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
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 PIGQ Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
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 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.9 PIGB Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
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 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 PHACTR1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
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 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 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.9 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.9 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
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 PARS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
Severe Paediatric Disorders v0.9 PAPSS2 Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
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 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.9 PACS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
Severe Paediatric Disorders v0.9 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.9 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
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 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.9 ORAI1 Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
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 OPA3 Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Severe Paediatric Disorders v0.9 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.9 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.9 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
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 NPRL3 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
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 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 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.9 NLRC4 Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
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 NKX2-5 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
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 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 NFIX Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
Severe Paediatric Disorders v0.9 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
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 NEFL Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
Severe Paediatric Disorders v0.9 NEFH Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
Severe Paediatric Disorders v0.9 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 NDRG1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
Severe Paediatric Disorders v0.9 NDP Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
Severe Paediatric Disorders v0.9 NDE1 Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
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 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
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 NACC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
Severe Paediatric Disorders v0.9 NAA10 Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
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 MYOT Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
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 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 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
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 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
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 MYH2 Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
Severe Paediatric Disorders v0.9 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
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 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 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.9 MTMR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
Severe Paediatric Disorders v0.9 MTM1 Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Severe Paediatric Disorders v0.9 MTHFR Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
Severe Paediatric Disorders v0.9 MTHFD1 Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
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-TW Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
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-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.9 MT-TR Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
Severe Paediatric Disorders v0.9 MT-TQ Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
Severe Paediatric Disorders v0.9 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.9 MT-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.9 MT-TM Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
Severe Paediatric Disorders v0.9 MT-TL2 Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
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-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
Severe Paediatric Disorders v0.9 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.9 MT-TA Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
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-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-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 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 MSTO1 Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
Severe Paediatric Disorders v0.9 MPZ Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
Severe Paediatric Disorders v0.9 MPV17 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Severe Paediatric Disorders v0.9 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.9 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MORC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
Severe Paediatric Disorders v0.9 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.9 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
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 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
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 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.9 MFN2 Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
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 MEGF10 Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
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 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
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 MDH2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
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 MCEE Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
Severe Paediatric Disorders v0.9 MCCC2 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
Severe Paediatric Disorders v0.9 MCCC1 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
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 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 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 MAPK8IP3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
Severe Paediatric Disorders v0.9 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
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 MACF1 Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
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 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 LRSAM1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
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 LRBA Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
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 LMOD3 Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
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 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.9 LMBR1 Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
Severe Paediatric Disorders v0.9 LITAF Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
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 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
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 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
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 LARGE1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
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 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 KRIT1 Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
Severe Paediatric Disorders v0.9 KLHL41 Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
Severe Paediatric Disorders v0.9 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.9 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
Severe Paediatric Disorders v0.9 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
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 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
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 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 KIF11 Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
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 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 KCTD3 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
Severe Paediatric Disorders v0.9 KCNT1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
Severe Paediatric Disorders v0.9 KCNQ2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
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 KCNB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
Severe Paediatric Disorders v0.9 KCNA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
Severe Paediatric Disorders v0.9 KBTBD13 Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
Severe Paediatric Disorders v0.9 KATNB1 Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
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 JPH2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
Severe Paediatric Disorders v0.9 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
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 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
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 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 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
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 INPP5K Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
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 IL2RA Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
Severe Paediatric Disorders v0.9 IGSF1 Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
Severe Paediatric Disorders v0.9 IGHMBP2 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
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 IGF1 Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
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 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 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.9 HYLS1 Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
Severe Paediatric Disorders v0.9 HTRA2 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
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 HSPB8 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
Severe Paediatric Disorders v0.9 HSPB1 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.9 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
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 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 HNRNPU Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
Severe Paediatric Disorders v0.9 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.9 HMGCS2 Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 HLCS Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
Severe Paediatric Disorders v0.9 HK1 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
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 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 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 HECW2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
Severe Paediatric Disorders v0.9 HCN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
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 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
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 GYG1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 GSS Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
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 GRIN2D Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
Severe Paediatric Disorders v0.9 GRIN2B Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
Severe Paediatric Disorders v0.9 GRIN2A Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
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 GRIA4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
Severe Paediatric Disorders v0.9 GRIA2 Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
Severe Paediatric Disorders v0.9 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.9 GNMT Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
Severe Paediatric Disorders v0.9 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.9 GNB5 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
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 GNAO1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Severe Paediatric Disorders v0.9 GMPPB Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
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 GLIS3 Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
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 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.9 GLDC Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
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 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
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 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.9 GFPT1 Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
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 GCLC Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
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 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.9 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
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 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 GARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
Severe Paediatric Disorders v0.9 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.9 GALK1 Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
Severe Paediatric Disorders v0.9 GABRG2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
Severe Paediatric Disorders v0.9 GABRB3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
Severe Paediatric Disorders v0.9 GABRB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
Severe Paediatric Disorders v0.9 GABRA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
Severe Paediatric Disorders v0.9 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.9 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.9 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.9 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.9 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
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 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.9 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.9 FREM1 Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
Severe Paediatric Disorders v0.9 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.9 FOXP1 Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
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 FOXE1 Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
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 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 FMO3 Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
Severe Paediatric Disorders v0.9 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.9 FLVCR1 Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Severe Paediatric Disorders v0.9 FLNC Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
Severe Paediatric Disorders v0.9 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.9 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.9 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.9 FKRP Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
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 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
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 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
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 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.9 FGD4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 FDXR Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
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 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.9 FBXL4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
Severe Paediatric Disorders v0.9 FBXL3 Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
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 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.9 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.9 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.9 EYA1 Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Severe Paediatric Disorders v0.9 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.9 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.9 ETHE1 Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
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 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 EIF4A3 Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
Severe Paediatric Disorders v0.9 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.9 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.9 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.9 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.9 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.9 EGR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
Severe Paediatric Disorders v0.9 EEF1A2 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
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 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 DYNC1H1 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
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 DPM3 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
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 DOCK7 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
Severe Paediatric Disorders v0.9 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.9 DNMT1 Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
Severe Paediatric Disorders v0.9 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
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 DNM1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
Severe Paediatric Disorders v0.9 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.9 DNAJC19 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
Severe Paediatric Disorders v0.9 DNAJB11 Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
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 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 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 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.9 DLX5 Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
Severe Paediatric Disorders v0.9 DLG4 Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
Severe Paediatric Disorders v0.9 DHX30 Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
Severe Paediatric Disorders v0.9 DHTKD1 Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
Severe Paediatric Disorders v0.9 DHPS Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
Severe Paediatric Disorders v0.9 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.9 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
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 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 DEPDC5 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
Severe Paediatric Disorders v0.9 DENND5A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
Severe Paediatric Disorders v0.9 DCTN1 Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
Severe Paediatric Disorders v0.9 DCLRE1C Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
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 DARS2 Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
Severe Paediatric Disorders v0.9 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.9 DAG1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
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 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.9 CYP11A1 Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
Severe Paediatric Disorders v0.9 CYFIP2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
Severe Paediatric Disorders v0.9 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.9 CYB5R3 Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
Severe Paediatric Disorders v0.9 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
Severe Paediatric Disorders v0.9 CWC27 Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
Severe Paediatric Disorders v0.9 CUX2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
Severe Paediatric Disorders v0.9 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
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 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
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 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.9 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.9 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.9 CTBP1 Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
Severe Paediatric Disorders v0.9 CSNK2B Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.9 ISPD Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
Severe Paediatric Disorders v0.9 CRIPT Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
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 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.9 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.9 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
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 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.9 COLQ Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
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 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 COL6A3 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
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 COL6A1 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
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 COL3A1 Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
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 COL13A1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
Severe Paediatric Disorders v0.9 COL12A1 Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
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 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.9 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.9 CNPY3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
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 CLPB Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
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 CLDN19 Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
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 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 CLCN2 Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
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 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 CHD8 Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
Severe Paediatric Disorders v0.9 CHD7 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
Severe Paediatric Disorders v0.9 CHD2 Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
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 CHAT Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
Severe Paediatric Disorders v0.9 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.9 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
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 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
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 CDKN1C Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
Severe Paediatric Disorders v0.9 CDKL5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
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 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.9 CD59 Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
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 CD40LG Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
Severe Paediatric Disorders v0.9 CD40 Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
Severe Paediatric Disorders v0.9 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
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 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.9 CAV3 Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
Severe Paediatric Disorders v0.9 CASR Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
Severe Paediatric Disorders v0.9 CASQ1 Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
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 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 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.9 CAD Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
Severe Paediatric Disorders v0.9 CACNA1G Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
Severe Paediatric Disorders v0.9 CACNA1E Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
Severe Paediatric Disorders v0.9 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.9 CACNA1B Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
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 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
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 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 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.9 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.9 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
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 BRAT1 Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.9 BMP4 Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
Severe Paediatric Disorders v0.9 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.9 BIN1 Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
Severe Paediatric Disorders v0.9 BHLHA9 Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
Severe Paediatric Disorders v0.9 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.9 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.9 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.9 B4GAT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
Severe Paediatric Disorders v0.9 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
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 B3GALNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
Severe Paediatric Disorders v0.9 AUH Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Severe Paediatric Disorders v0.9 ATRX Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
Severe Paediatric Disorders v0.9 ATP6V1B2 Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
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 ATP5D Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
Severe Paediatric Disorders v0.9 ATP2A1 Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Severe Paediatric Disorders v0.9 ATP1A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
Severe Paediatric Disorders v0.9 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.9 ASNS Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
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 ARX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
Severe Paediatric Disorders v0.9 ARV1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
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 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.9 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.9 ARCN1 Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
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 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.9 APOE Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
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 AP3B2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
Severe Paediatric Disorders v0.9 AP2M1 Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
Severe Paediatric Disorders v0.9 ANOS1 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
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 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.9 AMT Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
Severe Paediatric Disorders v0.9 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
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 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 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 ALG13 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
Severe Paediatric Disorders v0.9 ALDH6A1 Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
Severe Paediatric Disorders v0.9 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.9 ALB Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
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 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 AICDA Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 ADPRHL2 Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
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 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.9 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.9 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
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 ACSF3 Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
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 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.9 ABHD12 Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
Severe Paediatric Disorders v0.9 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.9 ABCD1 Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
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 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
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 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 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.9 TRAF3IP2 Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 RPS15 Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
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 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.9 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
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 TSEN34 Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
Severe Paediatric Disorders v0.9 TPM4 Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
Severe Paediatric Disorders v0.9 SEMA3E Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.9 KCNT2 Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
Severe Paediatric Disorders v0.9 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
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 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
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 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
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 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.9 YWHAG Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
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 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.9 XDH Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
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 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
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 WDR81 Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
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 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.9 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.9 WDR4 Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
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 WDR11 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
Severe Paediatric Disorders v0.9 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
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 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
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 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 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 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 VARS Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Severe Paediatric Disorders v0.9 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.9 USB1 Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.9 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.9 UNC80 Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
Severe Paediatric Disorders v0.9 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.9 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.9 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
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 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 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 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 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
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 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
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 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 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.9 TSHB Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
Severe Paediatric Disorders v0.9 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
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 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 TRIP4 Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
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 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TRAK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
Severe Paediatric Disorders v0.9 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
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 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
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 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNT1 Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.9 TMEM70 Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
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 TLR3 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
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 TIMM50 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
Severe Paediatric Disorders v0.9 TICAM1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
Severe Paediatric Disorders v0.9 TIA1 Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
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 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.9 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.9 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.9 THOC2 Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
Severe Paediatric Disorders v0.9 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
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 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
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 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
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 TCF4 Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
Severe Paediatric Disorders v0.9 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
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 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 TBR1 Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
Severe Paediatric Disorders v0.9 TBCK Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
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 TAZ Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
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 SZT2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
Severe Paediatric Disorders v0.9 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
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 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.9 SUZ12 Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
Severe Paediatric Disorders v0.9 SURF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Severe Paediatric Disorders v0.9 SUCLG1 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Severe Paediatric Disorders v0.9 SUCLA2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Severe Paediatric Disorders v0.9 STXBP1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
Severe Paediatric Disorders v0.9 STX1B Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.9 TMEM173 Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
Severe Paediatric Disorders v0.9 STIM1 Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
Severe Paediatric Disorders v0.9 STAT5B Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.9 STAC3 Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
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 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
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 SPTLC2 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Severe Paediatric Disorders v0.9 SPTLC1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
Severe Paediatric Disorders v0.9 SPTBN4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.9 SPTAN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
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 SPINK5 Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
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 SPEG Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
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 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
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 SOX10 Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
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 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.9 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.9 SMARCD1 Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
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 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.9 SLC5A7 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
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 SLC39A4 Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
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 SLC34A3 Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
Severe Paediatric Disorders v0.9 SLC34A2 Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.9 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
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 SLC25A46 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
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 SLC25A22 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
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 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.9 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.9 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.9 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
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 SLC1A2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
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 SLC18A3 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SLC13A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
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 SLC12A5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
Severe Paediatric Disorders v0.9 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
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 SIK1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
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 SHOC2 Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
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 SH3TC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
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 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 SERAC1 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Severe Paediatric Disorders v0.9 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.9 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.9 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
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 SCN8A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
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 SCN3A Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
Severe Paediatric Disorders v0.9 SCN2A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 SCN1A Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
Severe Paediatric Disorders v0.9 SCN11A Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
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 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.9 SBF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
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 RYR1 Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
Severe Paediatric Disorders v0.9 TMEM5 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
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 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.9 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.9 RTN4IP1 Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
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 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 RORB Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
Severe Paediatric Disorders v0.9 RORA Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
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 RNASET2 Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
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 RHOBTB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
Severe Paediatric Disorders v0.9 RETREG1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
Severe Paediatric Disorders v0.9 RERE Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
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 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.9 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.9 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.9 RBCK1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 RARB Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
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 RAI1 Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
Severe Paediatric Disorders v0.9 RAG2 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
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 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.9 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.9 RAB7A Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Severe Paediatric Disorders v0.9 RAB33B Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
Severe Paediatric Disorders v0.9 RAB11B Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
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 PUS7 Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
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 PTPN23 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
Severe Paediatric Disorders v0.9 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
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 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
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 PRX Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
Severe Paediatric Disorders v0.9 PRUNE1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
Severe Paediatric Disorders v0.9 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
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 PROKR2 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
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 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.9 PRKDC Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
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 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.9 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.9 PRDM12 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
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 PPP2CA Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
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 PPP1CB Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
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 POMT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
Severe Paediatric Disorders v0.9 POMT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
Severe Paediatric Disorders v0.9 POMK Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
Severe Paediatric Disorders v0.9 POMGNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
Severe Paediatric Disorders v0.9 POMGNT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
Severe Paediatric Disorders v0.9 POLR3B Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
Severe Paediatric Disorders v0.9 POLR3A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
Severe Paediatric Disorders v0.9 POLR2A Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
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 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 PLCB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
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 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
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 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.9 PITX1 Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
Severe Paediatric Disorders v0.9 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
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 PIGQ Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
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 PIGC Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
Severe Paediatric Disorders v0.9 PIGB Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
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 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 PHACTR1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
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 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 PCYT1A Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
Severe Paediatric Disorders v0.9 PCDH19 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
Severe Paediatric Disorders v0.9 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
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 PARS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
Severe Paediatric Disorders v0.9 PAPSS2 Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
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 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.9 PACS2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
Severe Paediatric Disorders v0.9 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.9 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
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 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.9 ORAI1 Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
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 OPA3 Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Severe Paediatric Disorders v0.9 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.9 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.9 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
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 NPRL3 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
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 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 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.9 NLRC4 Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
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 NKX2-5 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
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 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 NFIX Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
Severe Paediatric Disorders v0.9 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
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 NEFL Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
Severe Paediatric Disorders v0.9 NEFH Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
Severe Paediatric Disorders v0.9 NEB Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 NDRG1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
Severe Paediatric Disorders v0.9 NDP Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
Severe Paediatric Disorders v0.9 NDE1 Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
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 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
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 NACC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
Severe Paediatric Disorders v0.9 NAA10 Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
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 MYOT Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
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 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 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
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 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
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 MYH2 Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
Severe Paediatric Disorders v0.9 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
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 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 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.9 MTMR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
Severe Paediatric Disorders v0.9 MTM1 Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Severe Paediatric Disorders v0.9 MTHFR Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
Severe Paediatric Disorders v0.9 MTHFD1 Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
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-TW Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
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-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.9 MT-TR Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
Severe Paediatric Disorders v0.9 MT-TQ Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
Severe Paediatric Disorders v0.9 MT-TP Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
Severe Paediatric Disorders v0.9 MT-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.9 MT-TM Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
Severe Paediatric Disorders v0.9 MT-TL2 Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
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-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
Severe Paediatric Disorders v0.9 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.9 MT-TA Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
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-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-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 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 MSTO1 Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
Severe Paediatric Disorders v0.9 MPZ Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
Severe Paediatric Disorders v0.9 MPV17 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Severe Paediatric Disorders v0.9 MPLKIP Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
Severe Paediatric Disorders v0.9 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MORC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
Severe Paediatric Disorders v0.9 MUT Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.9 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
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 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
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 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.9 MFN2 Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
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 MEGF10 Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
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 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
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 MDH2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
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 MCEE Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
Severe Paediatric Disorders v0.9 MCCC2 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
Severe Paediatric Disorders v0.9 MCCC1 Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
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 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 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 MAPK8IP3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
Severe Paediatric Disorders v0.9 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
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 MACF1 Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
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 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 LRSAM1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
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 LRBA Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
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 LMOD3 Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
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 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.9 LMBR1 Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
Severe Paediatric Disorders v0.9 LITAF Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
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 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
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 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
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 LARGE1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
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 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 KRIT1 Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
Severe Paediatric Disorders v0.9 KLHL41 Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
Severe Paediatric Disorders v0.9 KLHL40 Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
Severe Paediatric Disorders v0.9 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
Severe Paediatric Disorders v0.9 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
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 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
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 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 KIF11 Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
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 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 KCTD3 Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
Severe Paediatric Disorders v0.9 KCNT1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
Severe Paediatric Disorders v0.9 KCNQ2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
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 KCNB1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
Severe Paediatric Disorders v0.9 KCNA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
Severe Paediatric Disorders v0.9 KBTBD13 Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
Severe Paediatric Disorders v0.9 KATNB1 Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
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 JPH2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
Severe Paediatric Disorders v0.9 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
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 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 ISCU Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
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 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 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
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 INPP5K Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
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 IL2RA Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
Severe Paediatric Disorders v0.9 IGSF1 Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
Severe Paediatric Disorders v0.9 IGHMBP2 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
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 IGF1 Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
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 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 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.9 HYLS1 Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
Severe Paediatric Disorders v0.9 HTRA2 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
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 HSPB8 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
Severe Paediatric Disorders v0.9 HSPB1 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.9 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
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 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 HNRNPU Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
Severe Paediatric Disorders v0.9 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.9 HMGCS2 Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 HLCS Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
Severe Paediatric Disorders v0.9 HK1 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
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 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 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 HECW2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
Severe Paediatric Disorders v0.9 HCN1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
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 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
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 GYG1 Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 GSS Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
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 GRIN2D Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
Severe Paediatric Disorders v0.9 GRIN2B Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
Severe Paediatric Disorders v0.9 GRIN2A Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
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 GRIA4 Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
Severe Paediatric Disorders v0.9 GRIA2 Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
Severe Paediatric Disorders v0.9 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Severe Paediatric Disorders v0.9 GNMT Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
Severe Paediatric Disorders v0.9 GNE Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
Severe Paediatric Disorders v0.9 GNB5 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
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 GNAO1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Severe Paediatric Disorders v0.9 GMPPB Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
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 GLIS3 Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
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 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.9 GLDC Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
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 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
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 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.9 GFPT1 Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
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 GCLC Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
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 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.9 GATA4 Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
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 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 GARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
Severe Paediatric Disorders v0.9 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.9 GALK1 Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
Severe Paediatric Disorders v0.9 GABRG2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
Severe Paediatric Disorders v0.9 GABRB3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
Severe Paediatric Disorders v0.9 GABRB2 Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
Severe Paediatric Disorders v0.9 GABRA2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
Severe Paediatric Disorders v0.9 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.9 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.9 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.9 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.9 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
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 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.9 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.9 FREM1 Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
Severe Paediatric Disorders v0.9 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.9 FOXP1 Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
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 FOXE1 Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
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 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 FMO3 Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
Severe Paediatric Disorders v0.9 FLVCR2 Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
Severe Paediatric Disorders v0.9 FLVCR1 Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Severe Paediatric Disorders v0.9 FLNC Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
Severe Paediatric Disorders v0.9 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.9 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.9 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.9 FKRP Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
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 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
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 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
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 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.9 FGD4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 FDXR Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
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 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.9 FBXL4 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
Severe Paediatric Disorders v0.9 FBXL3 Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
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 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.9 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.9 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.9 EYA1 Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Severe Paediatric Disorders v0.9 EXTL3 Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
Severe Paediatric Disorders v0.9 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.9 ETHE1 Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
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 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 EIF4A3 Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
Severe Paediatric Disorders v0.9 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.9 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.9 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.9 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.9 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.9 EGR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
Severe Paediatric Disorders v0.9 EEF1A2 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
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 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 DYNC1H1 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
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 DPM3 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
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 DOCK7 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
Severe Paediatric Disorders v0.9 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.9 DNMT1 Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
Severe Paediatric Disorders v0.9 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
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 DNM1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
Severe Paediatric Disorders v0.9 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.9 DNAJC19 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
Severe Paediatric Disorders v0.9 DNAJB11 Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
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 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 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 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.9 DLX5 Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
Severe Paediatric Disorders v0.9 DLG4 Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
Severe Paediatric Disorders v0.9 DHX30 Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
Severe Paediatric Disorders v0.9 DHTKD1 Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
Severe Paediatric Disorders v0.9 DHPS Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
Severe Paediatric Disorders v0.9 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.9 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
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 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 DEPDC5 Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
Severe Paediatric Disorders v0.9 DENND5A Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
Severe Paediatric Disorders v0.9 DCTN1 Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
Severe Paediatric Disorders v0.9 DCLRE1C Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
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 DARS2 Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
Severe Paediatric Disorders v0.9 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.9 DAG1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
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 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Severe Paediatric Disorders v0.9 CYP11A1 Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
Severe Paediatric Disorders v0.9 CYFIP2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
Severe Paediatric Disorders v0.9 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.9 CYB5R3 Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
Severe Paediatric Disorders v0.9 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
Severe Paediatric Disorders v0.9 CWC27 Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
Severe Paediatric Disorders v0.9 CUX2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
Severe Paediatric Disorders v0.9 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
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 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
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 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.9 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.9 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.9 CTBP1 Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
Severe Paediatric Disorders v0.9 CSNK2B Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.9 ISPD Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
Severe Paediatric Disorders v0.9 CRIPT Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
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 CRADD Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
Severe Paediatric Disorders v0.9 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.9 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
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 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.9 COLQ Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
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 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 COL6A3 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
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 COL6A1 Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
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 COL3A1 Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
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 COL13A1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
Severe Paediatric Disorders v0.9 COL12A1 Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
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 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.9 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.9 CNPY3 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
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 CLPB Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
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 CLDN19 Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
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 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 CLCN2 Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
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 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 CHD8 Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
Severe Paediatric Disorders v0.9 CHD7 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
Severe Paediatric Disorders v0.9 CHD2 Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
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 CHAT Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
Severe Paediatric Disorders v0.9 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.9 CFL2 Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
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 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
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 CDKN1C Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
Severe Paediatric Disorders v0.9 CDKL5 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
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 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.9 CD59 Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
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 CD40LG Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
Severe Paediatric Disorders v0.9 CD40 Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
Severe Paediatric Disorders v0.9 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
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 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.9 CAV3 Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
Severe Paediatric Disorders v0.9 CASR Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
Severe Paediatric Disorders v0.9 CASQ1 Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
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 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 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
Severe Paediatric Disorders v0.9 CAD Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
Severe Paediatric Disorders v0.9 CACNA1G Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
Severe Paediatric Disorders v0.9 CACNA1E Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
Severe Paediatric Disorders v0.9 CACNA1C Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
Severe Paediatric Disorders v0.9 CACNA1B Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
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 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
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 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 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.9 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.9 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
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 BRAT1 Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.9 BMP4 Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
Severe Paediatric Disorders v0.9 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.9 BIN1 Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
Severe Paediatric Disorders v0.9 BHLHA9 Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
Severe Paediatric Disorders v0.9 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.9 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.9 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.9 B4GAT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
Severe Paediatric Disorders v0.9 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
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 B3GALNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
Severe Paediatric Disorders v0.9 AUH Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Severe Paediatric Disorders v0.9 ATRX Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
Severe Paediatric Disorders v0.9 ATP6V1B2 Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
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 ATP5D Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
Severe Paediatric Disorders v0.9 ATP2A1 Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Severe Paediatric Disorders v0.9 ATP1A1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
Severe Paediatric Disorders v0.9 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.9 ASNS Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
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 ARX Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
Severe Paediatric Disorders v0.9 ARV1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
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 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.9 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.9 ARCN1 Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
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 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.9 APOE Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
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 AP3B2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
Severe Paediatric Disorders v0.9 AP2M1 Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
Severe Paediatric Disorders v0.9 ANOS1 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
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 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.9 AMT Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
Severe Paediatric Disorders v0.9 AMER1 Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
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 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 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 ALG13 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
Severe Paediatric Disorders v0.9 ALDH6A1 Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
Severe Paediatric Disorders v0.9 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.9 ALB Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
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 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 AICDA Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 ADPRHL2 Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
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 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.9 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.9 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
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 ACSF3 Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
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 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.9 ABHD12 Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
Severe Paediatric Disorders v0.9 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.9 ABCD1 Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
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 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
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 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 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.8 TRAF3IP2 Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
Severe Paediatric Disorders v0.8 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.8 RPS15 Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
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 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.8 IL22 Louise Daugherty Added phenotypes Arthritis; Immunodeficiency 5 for gene: IL22
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 TSEN34 Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
Severe Paediatric Disorders v0.8 TPM4 Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
Severe Paediatric Disorders v0.8 SEMA3E Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Added phenotypes Retinoblastoma, trilateral, 180200; Bladder cancer, somatic, 109800; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200; Small cell cancer of the lung, somatic, 182280 for gene: REEP2
Severe Paediatric Disorders v0.8 PRKACG Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.8 KCNT2 Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
Severe Paediatric Disorders v0.8 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
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 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
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 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
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 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.8 YWHAG Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
Severe Paediatric Disorders v0.8 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Severe Paediatric Disorders v0.8 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.8 XDH Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
Severe Paediatric Disorders v0.8 WWOX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 12, 614322; Epileptic encephalopathy, early infantile, 28, 616211 for gene: WWOX
Severe Paediatric Disorders v0.8 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.8 WNT10B Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
Severe Paediatric Disorders v0.8 WNT10A Louise Daugherty Added phenotypes Schopf-Schulz-Passarge syndrome, 224750; Tooth agenesis, selective, 4, 150400; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
Severe Paediatric Disorders v0.8 WDR81 Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
Severe Paediatric Disorders v0.8 WDR62 Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
Severe Paediatric Disorders v0.8 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.8 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.8 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.8 WDR4 Louise Daugherty Added phenotypes Galloway-Mowat syndrome 6, 618347; Microcephaly, growth deficiency, seizures, and brain malformations, 618346 for gene: WDR4
Severe Paediatric Disorders v0.8 WDR35 Louise Daugherty Added phenotypes Cranioectodermal dysplasia 2, 613610; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 for gene: WDR35
Severe Paediatric Disorders v0.8 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 4, 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Senior-Loken syndrome 8, 616307; Nephronophthisis 13, 614377 for gene: WDR19
Severe Paediatric Disorders v0.8 WDR11 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
Severe Paediatric Disorders v0.8 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Added phenotypes Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, intermittent, 313900; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Severe Paediatric Disorders v0.8 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 v0.8 VSX2 Louise Daugherty Added phenotypes Microphthalmia, isolated 2, 610093; Microphthalmia with coloboma 3, 610092 for gene: VSX2
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.8 VMA21 Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; Pheochromocytoma, 171300; von Hippel-Lindau syndrome, 193300 for gene: VHL
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 VARS Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Severe Paediatric Disorders v0.8 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600; Myasthenic syndrome, congenital, 25, 618323 for gene: VAMP1
Severe Paediatric Disorders v0.8 USB1 Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Added phenotypes Porphyria, hepatoerythropoietic, 176100; Porphyria cutanea tarda, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG