Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCB6 gene ABCB6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497 22226084 False 1 0;50;50 6.447 False ENSG00000115657 ENSG00000115657 HGNC:47 ACVR2B gene ACVR2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HETEROTAXY SYNDROME 207574 False 1 0;50;50 6.447 False ENSG00000114739 ENSG00000114739 HGNC:174 ADARB1 gene ADARB1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ADARB1-associated Microcephaly, Intellectual Disability, and Seizures 32220291 False 1 0;0;100 6.447 False ENSG00000197381 ENSG00000197381 HGNC:226 ADK gene ADK DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000156110 ENSG00000156110 HGNC:257 ADRA2B gene ADRA2B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000222040 ENSG00000274286 HGNC:282 AGPAT3 gene AGPAT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AGPAT3-related intellectual disability and retinitis pigmentosa 37821758 False 1 0;0;100 6.447 False ENSG00000160216 ENSG00000160216 HGNC:326 ALAD gene ALAD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ACUTE HEPATIC PORPHYRIA 612740 2063868 False 1 0;50;50 6.447 False ENSG00000148218 ENSG00000148218 HGNC:395 ANGPT2 gene ANGPT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ANGPT2-related non-immune hydrops fetalis 34876502 False 1 0;0;100 6.447 False ENSG00000091879 ENSG00000091879 HGNC:485 ANK2 gene ANK2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANK2-related neurodevelopmental disorder 25356970;30755392;22542183;28191889 False 1 0;0;100 6.447 False ENSG00000145362 ENSG00000145362 HGNC:493 ANO1 gene ANO1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ANO1-associated intestinal disease 32487539 False 1 0;0;100 6.447 False ENSG00000131620 ENSG00000131620 HGNC:21625 ANO3 gene ANO3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANO3-related dystonia, OMIM:615034 38079528;33502045 False 1 0;0;100 6.447 False ENSG00000134343 ENSG00000134343 HGNC:14004 ARHGEF6 gene ARHGEF6 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 46 300436 False 1 0;50;50 6.447 False ENSG00000129675 ENSG00000129675 HGNC:685 ARL14EP gene ARL14EP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000152219 ENSG00000152219 HGNC:26798 ARNT2 gene ARNT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926 24022475 False 1 0;0;100 6.447 False ENSG00000172379 ENSG00000172379 HGNC:16876 ASCC1 gene ASCC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures 35838082;26924529 False 1 33;33;33 6.447 False ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 21937992 False 1 0;50;50 6.447 False ENSG00000112249 ENSG00000112249 HGNC:18697 ASCL1 gene ASCL1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000139352 ENSG00000139352 HGNC:738 ATG4D gene ATG4D DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ATG4D-related neurodevelopmental disorder 36765070 False 1 0;0;100 6.447 False ENSG00000130734 ENSG00000130734 HGNC:20789 ATP6AP2 gene ATP6AP2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 False 1 0;50;50 6.447 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP8A2 gene ATP8A2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 16075202;22892528 False 1 0;50;50 6.447 False ENSG00000132932 ENSG00000132932 HGNC:13533 AXIN1 gene AXIN1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAUDAL DUPLICATION ANOMALY, OMIM:607864 False 1 0;50;50 6.447 False ENSG00000103126 ENSG00000103126 HGNC:903 B3GAT3 gene B3GAT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 31438591 False 1 0;50;50 6.447 False ENSG00000149541 ENSG00000149541 HGNC:923 BAZ2B gene BAZ2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BAZ2B-associated neurodevelopmental disorder 31999386 False 1 0;0;100 6.447 False ENSG00000123636 ENSG00000123636 HGNC:963 BCORL1 gene BCORL1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Shukla-Vernon Syndrome 30941876;33810051;34400773;24123876 False 1 0;0;100 6.447 False ENSG00000085185 ENSG00000085185 HGNC:25657 BSN gene BSN DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal BSN-related epilepsy 36600631 False 1 0;0;100 6.447 False ENSG00000164061 ENSG00000164061 HGNC:1117 CACNA1H gene CACNA1H DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 False 1 0;50;50 6.447 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CACNA2D1-related neurodevelopmental disorder 35293990 False 1 0;0;100 6.447 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB4 gene CACNB4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 10762541 False 1 0;50;50 6.447 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAPN10 gene CAPN10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000142330 ENSG00000142330 HGNC:1477 CAV1 gene CAV1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526 False 1 0;50;50 6.447 False ENSG00000105974 ENSG00000105974 HGNC:1527 CCDC78 gene CCDC78 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807 22818856 False 1 0;50;50 6.447 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCNA2 gene CCNA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000145386 ENSG00000145386 HGNC:1578 CCNK gene CCNK DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism 30122539 False 1 0;67;33 6.447 False ENSG00000090061 ENSG00000090061 HGNC:1596 CCT4 gene CCT4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT4-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000115484 ENSG00000115484 HGNC:1617 CCT5 gene CCT5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT5-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000150753 ENSG00000150753 HGNC:1618 CCT7 gene CCT7 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT7-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000135624 ENSG00000135624 HGNC:1622 CCT8 gene CCT8 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT8-related neurodevelopmental disorder with brain abnormalities False 1 0;0;100 6.447 False ENSG00000156261 ENSG00000156261 HGNC:1623 CD96 gene CD96 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown C SYNDROME 211750 17847009 False 1 0;50;50 6.447 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDC40 gene CDC40 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 1 0;0;100 6.447 False ENSG00000168438 ENSG00000168438 HGNC:17350 CDC42BPB gene CDC42BPB DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDC42BPB-related Neurodevelopmental Disorder 32031333 False 1 0;0;100 6.447 False ENSG00000198752 ENSG00000198752 HGNC:1738 CDH15 gene CDH15 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580 26506440;19012874 False 1 0;50;50 6.447 False ENSG00000129910 ENSG00000129910 HGNC:1754 CDK10 gene CDK10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Growth Retardation, Spine Malformations, and Developmental Delays 28886341;29130579 False 1 0;50;50 6.447 False ENSG00000185324 ENSG00000185324 HGNC:1770 CDK16 gene CDK16 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) INTELLECTUAL DISABILITY 25644381;36323681 False 1 0;50;50 6.447 False ENSG00000102225 ENSG00000102225 HGNC:8749 CDO1 gene CDO1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDO1-related neurodevelopmental disorder 39949058 False 1 0;0;100 6.447 False ENSG00000129596 ENSG00000129596 HGNC:1795 CELSR1 gene CELSR1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CELSR1-related fetal hydrops 38272662 False 1 0;0;100 6.447 False ENSG00000075275 ENSG00000075275 HGNC:1850 CELSR3 gene CELSR3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities;MONDO:0100038 38429302 False 1 0;0;100 6.447 False ENSG00000008300 ENSG00000008300 HGNC:3230 CHD5 gene CHD5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy 33944996 False 1 0;0;100 6.447 False ENSG00000116254 ENSG00000116254 HGNC:16816 CHRM1 gene CHRM1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHRM1-associated intellectual disability 34212451 False 1 0;0;100 6.447 False ENSG00000168539 ENSG00000168539 HGNC:1950 CIAO1 gene CIAO1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CIAO1-related neuromuscular disorder with intellectual disability;MONDO:0975806 38950322;38411040 False 1 0;0;100 6.447 False ENSG00000144021 ENSG00000144021 HGNC:14280 CLCNKA gene CLCNKA DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;50;50 6.447 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLDN5 gene CLDN5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLDN5-related neurodevelopmental disorder 35714222 False 1 0;0;100 6.447 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLDND1 gene CLDND1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLDND1-related leukodystrophy 38493358 False 1 0;0;100 6.447 False ENSG00000080822 ENSG00000080822 HGNC:1322 CLIC2 gene CLIC2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 32 300886 22814392 False 1 0;50;50 6.447 False ENSG00000155962 ENSG00000155962 HGNC:2063 CNKSR1 gene CNKSR1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000142675 ENSG00000142675 HGNC:19700 COA5 gene COA5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 1 0;50;50 6.447 False ENSG00000183513 ENSG00000183513 HGNC:33848 COMP gene COMP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 9021009;9463320;12483304;7670472;9887340 False 1 0;50;50 6.447 False Other ENSG00000105664 ENSG00000105664 HGNC:2227 COPB1 gene COPB1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly 33632302 False 1 0;0;100 6.447 False ENSG00000129083 ENSG00000129083 HGNC:2231 COQ5 gene COQ5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 1 0;50;50 6.447 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX18 gene COX18 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal COX18-related peripheral neuropathy 38960055;37468577;39006432 False 1 0;0;100 6.447 False ENSG00000163626 ENSG00000163626 HGNC:26801 CRADD gene CRADD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 27773430;22279524 False 1 0;50;50 6.447 False ENSG00000169372 ENSG00000169372 HGNC:2340 CRBN gene CRBN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417 18414909 False 1 0;50;50 6.447 False ENSG00000113851 ENSG00000113851 HGNC:30185 CRIM1 gene CRIM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Colobomatous macrophthalmia with microcornea syndrome 25561690 False 1 0;50;50 6.447 False ENSG00000150938 ENSG00000150938 HGNC:2359 CRKL gene CRKL DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bladder exstrophy plus False 1 0;50;50 6.447 False ENSG00000099942 ENSG00000099942 HGNC:2363 CRLS1 gene CRLS1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRLS1-related mitochondrial disorder 35147173 False 1 0;0;100 6.447 False ENSG00000088766 ENSG00000088766 HGNC:16148 CSDE1 gene CSDE1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSDE1-associated intellectual disability and autism 33867523;31579823 False 1 0;0;100 6.447 False ENSG00000009307 ENSG00000009307 HGNC:29905 CSNK1G1 gene CSNK1G1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY 24463883 False 1 0;50;50 6.447 False ENSG00000169118 ENSG00000169118 HGNC:2454 CYHR1 gene CYHR1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ZFTRAF1-related neurodevelopmental disorder 38641995 False 1 0;0;100 6.447 False ENSG00000187954 ENSG00000187954 HGNC:17806 CYP24A1 gene CYP24A1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Hereditary 1,25-dihydroxyvitamin D-resistant rickets 27394135 False 1 0;50;50 6.447 False ENSG00000019186 ENSG00000019186 HGNC:2602 D2HGDH gene D2HGDH DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal D-2-HYDROXYGLUTARIC ACIDURIA 1 600721 15609246 False 1 0;50;50 6.447 False ENSG00000180902 ENSG00000180902 HGNC:28358 DACT1 gene DACT1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems 22610794;36066768;28054444 False 1 0;50;50 6.447 False ENSG00000165617 ENSG00000165617 HGNC:17748 DCAF17 gene DCAF17 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal WOODHOUSE-SAKATI SYNDROME 241080 False 1 0;50;50 6.447 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDX54 gene DDX54 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability and Central Nervous System anomalies 31256877 False 1 0;50;50 6.447 False ENSG00000123064 ENSG00000123064 HGNC:20084 DDX58 gene DDX58 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SINGLETON-MERTEN SYNDROME 182250 25620203 False 1 0;50;50 6.447 False ENSG00000107201 ENSG00000107201 HGNC:19102 DENND5B gene DENND5B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities 38387458 False 1 0;0;100 6.447 False ENSG00000170456 ENSG00000170456 HGNC:28338 DGAT1 gene DGAT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DIARRHEAL DISORDERS 23114594 False 1 0;50;50 6.447 False ENSG00000185000 ENSG00000185000 HGNC:2843 DHRS3 gene DHRS3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DHRS3 related craniosynostosis False 1 0;50;50 6.447 False ENSG00000162496 ENSG00000162496 HGNC:17693 DHX16 gene DHX16 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Central Nervous System anomalies and Seizures 31256877 False 1 0;50;50 6.447 False ENSG00000204560 ENSG00000204560 HGNC:2739 DHX34 gene DHX34 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DISABILITY 616579 31256877 False 1 0;50;50 6.447 False ENSG00000134815 ENSG00000134815 HGNC:16719 DHX37 gene DHX37 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability and Central Nervous System anomalies 31256877 False 1 0;50;50 6.447 False ENSG00000150990 ENSG00000150990 HGNC:17210 DIP2B gene DIP2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, FRA12A TYPE 136630 17236128 False 1 0;50;50 6.447 False ENSG00000066084 ENSG00000066084 HGNC:29284 DISP1 gene DISP1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY, OMIM:609637 False 1 0;0;100 6.447 False ENSG00000154309 ENSG00000154309 HGNC:19711 DLG2 gene DLG2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DLG2-related neurodevelopmental disorder 37860969 False 1 0;0;100 6.447 False ENSG00000150672 ENSG00000150672 HGNC:2901 DLG5 gene DLG5 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DLG5-associated developmental disorder (biallelic);DLG5-associated developmental disorder (monoallelic) 32631816 False 1 0;0;100 6.447 False ENSG00000151208 ENSG00000151208 HGNC:2904 DLX5 gene DLX5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SPLIT HAND AND FOOT MALFORMATION 220600 22121204 False 1 0;50;50 6.447 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMPK gene DMPK DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 False 1 33;33;33 6.447 False Other ENSG00000104936 ENSG00000104936 HGNC:2933 DNA2 gene DNA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 24389050 False 1 0;50;50 6.447 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAH14 gene DNAH14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DNAH14-related Neurodevelopmental disorder 35438214 False 1 0;0;100 6.447 False ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJB13 gene DNAJB13 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia and Male Infertility 27486783 False 1 0;50;50 6.447 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAJB4 gene DNAJB4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DNAJB4-related myopathy with early respiratory failure 36264506 False 1 0;0;100 6.447 False ENSG00000162616 ENSG00000162616 HGNC:14886 DOCK4 gene DOCK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DOCK4-related neurodevelopmental disorder 38526744 False 1 0;0;100 6.447 False ENSG00000128512 ENSG00000128512 HGNC:19192 DSE gene DSE DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 23704329 False 1 0;50;50 6.447 False ENSG00000111817 ENSG00000111817 HGNC:21144 EEF1B2 gene EEF1B2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000114942 ENSG00000114942 HGNC:3208 EEF2 gene EEF2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EEF2-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000167658 ENSG00000167658 HGNC:3214 EIF2AK1 gene EIF2AK1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF2AK1-associated Neurodevelopmental Syndrome 32197074 False 1 0;0;100 6.447 False ENSG00000086232 ENSG00000086232 HGNC:24921 ELFN1 gene ELFN1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ELFN1-related intellectual disability and epilepsy 40576023;34509675;34452636 False 1 50;0;50 6.447 False ENSG00000225968 ENSG00000225968 HGNC:33154 ELP2 gene ELP2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000134759 ENSG00000134759 HGNC:18248 EMX2 gene EMX2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160 False 1 0;50;50 6.447 False ENSG00000170370 ENSG00000170370 HGNC:3341 ENTPD1 gene ENTPD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000138185 ENSG00000138185 HGNC:3363 EOMES gene EOMES DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS 17353897 False 1 0;50;50 6.447 False ENSG00000163508 ENSG00000163508 HGNC:3372 EPB41L1 gene EPB41L1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 21376300 False 1 0;50;50 6.447 False ENSG00000088367 ENSG00000088367 HGNC:3378 EPHB4 gene EPHB4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2 28687708;29444212 False 1 0;50;50 6.447 False ENSG00000196411 ENSG00000196411 HGNC:3395 ERLIN2 gene ERLIN2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000147475 ENSG00000147475 HGNC:1356 ERMARD gene ERMARD DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PERIVENTRICULAR HETEROTOPIA 24056535 False 1 0;50;50 6.447 False ENSG00000130023 ENSG00000130023 HGNC:21056 EXOSC2 gene EXOSC2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome 36069504;26843489 False 1 0;0;100 6.447 False ENSG00000130713 ENSG00000130713 HGNC:17097 FASN gene FASN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000169710 ENSG00000169710 HGNC:3594 FBLN1 gene FBLN1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 False 1 0;50;50 6.447 False ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 False 1 0;50;50 6.447 False ENSG00000107829 ENSG00000107829 HGNC:10847 FDFT1 gene FDFT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Defect in Cholesterol Biosynthesis 29909962 False 1 0;50;50 6.447 False ENSG00000079459 ENSG00000079459 HGNC:3629 FEM1C gene FEM1C DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEM1C-related developmental disorder 36336956 False 1 0;0;100 6.447 False Other ENSG00000145780 ENSG00000145780 HGNC:16933 FICD gene FICD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal FICD-related infancy-onset diabetes and neurodevelopmental disorder 36704923 False 1 0;0;100 6.447 False ENSG00000198855 ENSG00000198855 HGNC:18416 FLG gene FLG DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS VULGARIS 146700 17291859;16444271 False 1 0;50;50 6.447 False ENSG00000143631 ENSG00000143631 HGNC:3748 FOXI3 gene FOXI3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOXI3-related microtia and craniofacial microsomia 36260083 False 1 0;0;100 6.447 False ENSG00000214336 ENSG00000214336 HGNC:35123 FRY gene FRY DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000073910 ENSG00000073910 HGNC:20367 FTO gene FTO DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 19559399 False 1 0;50;50 6.447 False ENSG00000140718 ENSG00000140718 HGNC:24678 GABRG1 gene GABRG1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABRG1-associated epileptic encephalopathy 36121006 False 1 0;0;100 6.447 False ENSG00000163285 ENSG00000163285 HGNC:4086 GAD1 gene GAD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 15571623 False 1 0;50;50 6.447 False ENSG00000128683 ENSG00000128683 HGNC:4092 GDF3 gene GDF3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA ISOLATED TYPE 7 613704;KLIPPEL-FEIL SYNDROME TYPE 3 613702;MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 19864492;29260090 False 1 0;50;50 6.447 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDI1 gene GDI1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 48 300849;MENTAL RETARDATION X-LINKED TYPE 41 300849 22002931;21736009;9620768;28863211 False 1 0;50;50 6.447 False ENSG00000203879 ENSG00000203879 HGNC:4226 GIGYF1 gene GIGYF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GIGYF1-related developmental disorder (monoallelic) 33057194 False 1 0;0;100 6.447 False ENSG00000146830 ENSG00000146830 HGNC:9126 GNB3 gene GNB3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. 27063057 False 1 0;50;50 6.447 False ENSG00000111664 ENSG00000111664 HGNC:4400 GNE gene GNE DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal GNE-associated congenital myopathy;GNE-associated sialuria, OMIM:269921 11486897;35121750;11326336;10356312;29923088;27142465;10330343;32053088 False 1 0;0;100 6.447 False ENSG00000159921 ENSG00000159921 HGNC:23657 GON4L gene GON4L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION;Li-Takada-Miyake syndrome, OMIM:621212;Li-Takada-Miyake syndrome, MONDO:0978303 21937992 False 1 0;50;50 6.447 False ENSG00000116580 ENSG00000116580 HGNC:25973 GPHN gene GPHN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GPHN-related molybdenum cofactor deficiency, OMIM:615501 11095995;22040219 False 1 0;0;100 6.447 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRIA4 gene GRIA4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 29220673 False 1 0;50;50 6.447 False ENSG00000152578 ENSG00000152578 HGNC:4574 GSPT2 gene GSPT2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females XL INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2IRD1 gene GTF2IRD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GTF2IRD1-related neurodevelopmental disorder 36308390 False 1 0;0;100 6.447 False ENSG00000006704 ENSG00000006704 HGNC:4661 HARS gene HARS DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal USHER SYNDROME 614504 22279524 False 1 0;50;50 6.447 False ENSG00000170445 ENSG00000170445 HGNC:4816 HEATR5B gene HEATR5B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HEATR5B-related pontocerebellar hypoplasia 38622473;33824466 False 1 0;0;100 6.447 False ENSG00000008869 ENSG00000008869 HGNC:29273 HIRA gene HIRA DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIRA-related neurodevelopmental disorder 33417013 False 1 0;0;100 6.447 False ENSG00000100084 ENSG00000100084 HGNC:4916 HIST1H2AC gene HIST1H2AC DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIST1H2AC-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000180573 ENSG00000180573 HGNC:4733 HIST1H4B gene HIST1H4B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000124529 ENSG00000278705 HGNC:4789 HIST3H3 gene HIST3H3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000168148 ENSG00000168148 HGNC:4778 HMGB3 gene HMGB3 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature 24993872 False 1 0;50;50 6.447 False ENSG00000029993 ENSG00000029993 HGNC:5004 HOXA11 gene HOXA11 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 26581901 False 1 0;50;50 6.447 False ENSG00000005073 ENSG00000005073 HGNC:5101 HTRA2 gene HTRA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria 27696117 False 1 0;50;50 6.447 False ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 25130867;28328135 False 1 0;50;50 6.447 False ENSG00000067704 ENSG00000067704 HGNC:29685 IGBP1 gene IGBP1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 23871722 False 1 0;50;50 6.447 False ENSG00000089289 ENSG00000089289 HGNC:5461 IKZF2 gene IKZF2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233;Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 37316189 False 1 0;0;100 6.447 False Other ENSG00000030419 ENSG00000030419 HGNC:13177 IL11 gene IL11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 21741611 False 1 0;50;50 6.447 False ENSG00000095752 ENSG00000095752 HGNC:5966 ITGA6 gene ITGA6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730 9185503 False 1 0;50;50 6.447 False ENSG00000091409 ENSG00000091409 HGNC:6142 JMJD1C gene JMJD1C DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JMJD1C-related neurodevelopmental disorder 26181491;31954878 False 1 0;0;100 6.447 False ENSG00000171988 ENSG00000171988 HGNC:12313 KANK1 gene KANK1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900 16301218 False 1 0;50;50 6.447 False ENSG00000107104 ENSG00000107104 HGNC:19309 KCNA1 gene KCNA1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal KCNA1-related epileptic encephalopathy, biallelic;KCNA1-related epileptic encephalopathy, monoallelic 30055040;33355533;31586945 False 1 0;0;100 6.447 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA4 gene KCNA4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal KCN4 related abnormal striatum, congenital cataract and intellectual disability. 27582084 False 1 0;50;50 6.447 False ENSG00000182255 ENSG00000182255 HGNC:6222 KCNK4 gene KCNK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 30290154 False 1 0;50;50 6.447 False Other ENSG00000182450 ENSG00000182450 HGNC:6279 KCNK9 gene KCNK9 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BIRK-BAREL SYNDROME, OMIM:612292 False 1 0;50;50 6.447 False Other ENSG00000169427 ENSG00000169427 HGNC:6283 KCNT2 gene KCNT2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and infantile epileptic encephalopathy 29740868 False 1 0;50;50 6.447 False Other ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD1 gene KCTD1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCALP-EAR-NIPPLE SYNDROME 23541344 False 1 0;50;50 6.447 False Other ENSG00000134504 ENSG00000134504 HGNC:18249 KDM5A gene KDM5A DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000073614 ENSG00000073614 HGNC:9886 KIAA0391 gene KIAA0391 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRORP-related mitochondrial disorder 34715011 False 1 0;0;100 6.447 False ENSG00000100890 ENSG00000100890 HGNC:19958 KIF3B gene KIF3B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KIF3B-related ciliopathy 32386558 False 1 0;0;100 6.447 False ENSG00000101350 ENSG00000101350 HGNC:6320 KIF4A gene KIF4A DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 24812067 False 1 0;50;50 6.447 False ENSG00000090889 ENSG00000090889 HGNC:13339 KIRREL3 gene KIRREL3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 19012874 False 1 0;50;50 6.447 False ENSG00000149571 ENSG00000149571 HGNC:23204 KITLG gene KITLG DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG SYNDROME TYPE 2 26522471 False 1 0;50;50 6.447 False Other ENSG00000049130 ENSG00000049130 HGNC:6343 KLF8 gene KLF8 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) NONSYNDROMIC MENTAL RETARDATION 22495311 False 1 0;50;50 6.447 False ENSG00000102349 ENSG00000102349 HGNC:6351 KLHL15 gene KLHL15 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381 False 1 0;50;50 6.447 False ENSG00000174010 ENSG00000174010 HGNC:29347 KPNA7 gene KPNA7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Gomez-Lopez-Fernandes syndrome 24045845 False 1 0;50;50 6.447 False ENSG00000185467 ENSG00000185467 HGNC:21839 LAGE3 gene LAGE3 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females GALLOWAY-MOWAT SYNDROME 2, 301006 28805828 False 1 0;50;50 6.447 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAS1L gene LAS1L DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381;34653234 False 1 0;50;50 6.447 False ENSG00000001497 ENSG00000001497 HGNC:25726 LDB3 gene LDB3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 False 1 0;50;50 6.447 False ENSG00000122367 ENSG00000122367 HGNC:15710 LEFTY2 gene LEFTY2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HETEROTAXY SYNDROME 207574 10053005 False 1 0;50;50 6.447 False ENSG00000143768 ENSG00000143768 HGNC:3122 LMBRD2 gene LMBRD2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LMBRD2-associated intellectual disability 32820033 False 1 0;0;100 6.447 False ENSG00000164187 ENSG00000164187 HGNC:25287 LRP6 gene LRP6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth Agenesis 26963285 False 1 0;50;50 6.447 False ENSG00000070018 ENSG00000070018 HGNC:6698 LSM11 gene LSM11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LSM11-related Aicardi-Goutieres syndrome 33230297 False 1 0;0;100 6.447 False ENSG00000155858 ENSG00000155858 HGNC:30860 MAGI2 gene MAGI2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EARLY ONSET EPILEPTIC ENCEPHALOPATHY 18565486 False 1 0;50;50 6.447 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAGT1 gene MAGT1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 95 300716 18455129 False 1 0;50;50 6.447 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2A2 gene MAN2A2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MAN2A2-related disorder of glycosylation 36357165 False 1 0;0;100 6.447 False ENSG00000196547 ENSG00000196547 HGNC:6825 MAPK10 gene MAPK10 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369 False 1 0;50;50 6.447 False ENSG00000109339 ENSG00000109339 HGNC:6872 MARK4 gene MARK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MONDO:0700092;MARK4-related neurodevelopmental disorder 38041405 False 1 0;0;100 6.447 False Other ENSG00000007047 ENSG00000007047 HGNC:13538 MAU2 gene MAU2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAU2 neurodevelopmental disorder 32433956 False 1 0;0;100 6.447 False ENSG00000129933 ENSG00000129933 HGNC:29140 MED23 gene MED23 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 False 1 0;50;50 6.447 False ENSG00000112282 ENSG00000112282 HGNC:2372 MIB1 gene MIB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIB1-related developmental disorder (monoallelic) 33057194;30322850 False 1 0;0;100 6.447 False ENSG00000101752 ENSG00000101752 HGNC:21086 MKL2 gene MKL2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MRTFB-related neurodevelopmental disorder 37013900 False 1 0;0;100 6.447 False Other ENSG00000186260 ENSG00000186260 HGNC:29819 MMP14 gene MMP14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal WINCHESTER SYNDROME 22922033 False 1 0;50;50 6.447 False ENSG00000157227 ENSG00000157227 HGNC:7160 MMP15 gene MMP15 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MMP15-related developmental disorder 34988996;33875846 False 1 0;0;100 6.447 False ENSG00000102996 ENSG00000102996 HGNC:7161 MMS19 gene MMS19 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MMS19-related dihydropyrimidine dehydrogenase deficiency 38411040 False 1 0;0;100 6.447 False ENSG00000155229 ENSG00000155229 HGNC:13824 MPC2 gene MPC2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MPC2-related metabolic disorder 36417180 False 1 0;0;100 6.447 False ENSG00000143158 ENSG00000143158 HGNC:24515 MPDZ gene MPDZ DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219 23240096 False 1 0;50;50 6.447 False ENSG00000107186 ENSG00000107186 HGNC:7208 MSI1 gene MSI1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MSI1-associated Microcephaly 28572454 False 1 0;50;50 6.447 False ENSG00000135097 ENSG00000135097 HGNC:7330 MTF1 gene MTF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000188786 ENSG00000188786 HGNC:7428 MT-TL1 gene MT-TL1 DD-Gene2Phenotype;Expert Review Red DDG2P MITOCHONDRIAL MT-TL1-associated mitochondrial disorder 34075211 False 1 0;0;100 6.447 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYCBP2 gene MYCBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYCBP2-related developmental delay with corpus callosum defects 36200388 False 1 0;0;100 6.447 False ENSG00000005810 ENSG00000005810 HGNC:23386 MYH11 gene MYH11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 25407000;29575632 False 1 0;50;50 6.447 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYH6 gene MYH6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOMYOPATHY DILATED TYPE 1EE 613252;CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251;ATRIAL SEPTAL DEFECT TYPE 3 614089 15735645;29536580;31638415;20656787;29969989;29505555;34481090 False 1 0;33;67 6.447 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYL1 gene MYL1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 30215711 False 1 0;0;100 6.447 False ENSG00000168530 ENSG00000168530 HGNC:7582 MYSM1 gene MYSM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MYSM1-related congenital bone marrow failure, OMIM:618116 26220525;32640305;28115216;33618624;24288411 False 1 0;0;100 6.447 False ENSG00000162601 ENSG00000162601 HGNC:29401 MYT1 gene MYT1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OAVS/Goldenhar syndrome 27358179 False 1 0;50;50 6.447 False ENSG00000196132 ENSG00000196132 HGNC:7622 NAA20 gene NAA20 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NAA20-associated developmental delay and microcephaly 34230638 False 1 0;0;100 6.447 False ENSG00000173418 ENSG00000173418 HGNC:15908 NADK2 gene NADK2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Dienoyl-CoA reductase deficiency with hyperlysinemia 24847004 False 1 0;50;50 6.447 False ENSG00000152620 ENSG00000152620 HGNC:26404 NCAPD2 gene NCAPD2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly with short stature 27737959 False 1 0;50;50 6.447 False ENSG00000010292 ENSG00000010292 HGNC:24305 NCAPD3 gene NCAPD3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly with short stature 27737959 False 1 0;50;50 6.447 False ENSG00000151503 ENSG00000151503 HGNC:28952 NCAPH gene NCAPH DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal microcephaly 27737959 False 1 0;50;50 6.447 False ENSG00000121152 ENSG00000121152 HGNC:1112 NCKAP1 gene NCKAP1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NCKAP1-related Neurodevelopmental Disorder 33157009 False 1 0;0;100 6.447 False ENSG00000061676 ENSG00000061676 HGNC:7666 NCOR1 gene NCOR1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NCOR1-related developmental disorder 30289594;27824329 False 1 0;0;100 6.447 False ENSG00000141027 ENSG00000141027 HGNC:7672 NDUFA9 gene NDUFA9 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000 False 1 0;50;50 6.447 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFB7 gene NDUFB7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy 33502047 False 1 0;0;100 6.447 False ENSG00000099795 ENSG00000099795 HGNC:7702 NOTCH3 gene NOTCH3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INFANTILE MYOFIBROMATOSIS 615293 23731542 False 1 0;50;50 6.447 False Other ENSG00000074181 ENSG00000074181 HGNC:7883 NR1I3 gene NR1I3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EHMT1-LIKE INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000143257 ENSG00000143257 HGNC:7969 NRXN2 gene NRXN2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 False 1 0;50;50 6.447 False ENSG00000110076 ENSG00000110076 HGNC:8009 NRXN3 gene NRXN3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 22209245 False 1 0;50;50 6.447 False ENSG00000021645 ENSG00000021645 HGNC:8010 NSMCE3 gene NSMCE3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DISTINCT DNA BREAKAGE SYNDROME False 1 0;50;50 6.447 False ENSG00000185115 ENSG00000185115 HGNC:7677 NSUN6 gene NSUN6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NSUN6-related neurodevelopmental disorder 37226891 False 1 0;0;100 6.447 False ENSG00000241058 ENSG00000241058 HGNC:23529 NUDCD2 gene NUDCD2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NUDCD2-related brain and cardiac malformations with cholestasis and renal failure 37272762 False 1 0;0;100 6.447 False ENSG00000170584 ENSG00000170584 HGNC:30535 OTUD7A gene OTUD7A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 15q13.3 deletions phenocopy 29395074 False 1 0;50;50 6.447 False ENSG00000169918 ENSG00000169918 HGNC:20718 PABPC1 gene PABPC1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PABPC1-related developmental delay 35511136 False 1 0;0;100 6.447 False ENSG00000070756 ENSG00000070756 HGNC:8554 PARP1 gene PARP1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000143799 ENSG00000143799 HGNC:270 PCBP2 gene PCBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCBP2-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000197111 ENSG00000197111 HGNC:8648 PDIA6 gene PDIA6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy 33495992;35856135 False 1 0;0;100 6.447 False ENSG00000143870 ENSG00000143870 HGNC:30168 PECR gene PECR DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000115425 ENSG00000115425 HGNC:18281 PHC1 gene PHC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY MICROCEPHALY 615414 23418308 False 1 0;50;50 6.447 False ENSG00000111752 ENSG00000111752 HGNC:3182 PIGM gene PIGM DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency 16767100 False 1 0;50;50 6.447 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGQ gene PIGQ DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 24463883 False 1 0;50;50 6.447 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGW gene PIGW DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 24367057 False 1 0;50;50 6.447 False ENSG00000184886 ENSG00000277161 HGNC:23213 PISD gene PISD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:618889.0;MONDO:0030045;PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function 38801004;31263216;30858161;30488656 False 1 0;0;100 6.447 False ENSG00000241878 ENSG00000241878 HGNC:8999 PLA2G16 gene PLA2G16 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683 37919452 False 1 0;0;100 6.447 False ENSG00000176485 ENSG00000176485 HGNC:17825 PLCG2 gene PLCG2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878;Familial cold autoinflammatory syndrome 3, OMIM:614468 23000145 False 1 0;50;50 6.447 False ENSG00000197943 ENSG00000197943 HGNC:9066 PLCH1 gene PLCH1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HPE-related disorder 33820834 False 1 0;0;100 6.447 False ENSG00000114805 ENSG00000114805 HGNC:29185 PLOD3 gene PLOD3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LYSYL HYDROXYLASE 3 DEFICIENCY 612394 18834968 False 1 0;50;50 6.447 False ENSG00000106397 ENSG00000106397 HGNC:9083 PLXNA1 gene PLXNA1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal PLXNA1-associated neurodevelopmental disorder (biallelic);PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic) 34054129 False 1 0;0;100 6.447 False ENSG00000114554 ENSG00000114554 HGNC:9099 POLR3GL gene POLR3GL DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Endosteal Hyperostosis and Oligodontia 31089205 False 1 0;0;100 6.447 False ENSG00000121851 ENSG00000121851 HGNC:28466 POMP gene POMP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 20226437 False 1 0;50;50 6.447 False ENSG00000132963 ENSG00000132963 HGNC:20330 POT1 gene POT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Coats Plus 27013236 False 1 0;50;50 6.447 False ENSG00000128513 ENSG00000128513 HGNC:17284 PPM1K gene PPM1K DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PPM1K-related maple syrup urine disease 23086801;36706222 False 1 0;0;100 6.447 False ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Severe microcephaly, short stature and intellectual disability 26307080 False 1 0;50;50 6.447 False ENSG00000158615 ENSG00000158615 HGNC:14951 PPP1R3F gene PPP1R3F DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females PPP1R3F-related neurodevelopmental disorder 37531237 False 1 0;0;100 6.447 False ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2R2B gene PPP2R2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPP2R2B-related neurodevelopmental disorder 25356899;39565297 False 1 0;0;100 6.447 False ENSG00000156475 ENSG00000156475 HGNC:9305 PRDM15 gene PRDM15 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRDM15-related renal and neurodevelopmental disorder 33593823 False 1 0;0;100 6.447 False ENSG00000141956 ENSG00000141956 HGNC:13999 PRDM6 gene PRDM6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Isolated Nonsyndromic Patent Ductus Arteriosus. 27181681 False 1 0;50;50 6.447 False ENSG00000061455 ENSG00000061455 HGNC:9350 PRMT9 gene PRMT9 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000164169 ENSG00000164169 HGNC:25099 PROSER1 gene PROSER1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PROSER1-related developmental disorder 35229282 False 1 0;0;100 6.447 False ENSG00000120685 ENSG00000120685 HGNC:20291 PSMC1 gene PSMC1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMC1-related neurodevelopmental disorder 35861243 False 1 0;0;100 6.447 False ENSG00000100764 ENSG00000100764 HGNC:9547 PSMD11 gene PSMD11 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMD11-related neurodevelopmental disorder with or without obesity 38866022 False 1 0;0;100 6.447 False ENSG00000108671 ENSG00000108671 HGNC:9556 PSMD12 gene PSMD12 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global Developmental Delay, Multiple Malformations 28388435 False 1 0;50;50 6.447 False ENSG00000197170 ENSG00000197170 HGNC:9557 PTPRF gene PTPRF DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ATHELIA 24781087 False 1 0;50;50 6.447 False ENSG00000142949 ENSG00000142949 HGNC:9670 QKI gene QKI DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 20082458 False 1 0;50;50 6.447 False ENSG00000112531 ENSG00000112531 HGNC:21100 RABL6 gene RABL6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000196642 ENSG00000196642 HGNC:24703 RAD50 gene RAD50 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078 19409520 False 1 0;50;50 6.447 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRROR MOVEMENTS 2 614508 21242494 False 1 0;50;50 6.447 False ENSG00000051180 ENSG00000051180 HGNC:9817 RALGDS gene RALGDS DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000160271 ENSG00000160271 HGNC:9842 RANBP2 gene RANBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 19118815 False 1 0;50;50 6.447 False ENSG00000153201 ENSG00000153201 HGNC:9848 RAP1B gene RAP1B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAP1B-related developmental disorder 32627184;26280580 False 1 0;0;100 6.447 False ENSG00000127314 ENSG00000127314 HGNC:9857 RASA1 gene RASA1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PARKES WEBER SYNDROME 608355;CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 18363760;14639529 False 1 0;33;67 6.447 False ENSG00000145715 ENSG00000145715 HGNC:9871 RBFOX1 gene RBFOX1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RBFOX1-related neurodevelopmental disorder 26185613;26749308 False 1 0;0;100 6.447 False ENSG00000078328 ENSG00000078328 HGNC:18222 RBM28 gene RBM28 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 18439547 False 1 0;50;50 6.447 False ENSG00000106344 ENSG00000106344 HGNC:21863 RGS7 gene RGS7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000182901 ENSG00000182901 HGNC:10003 RICTOR gene RICTOR DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RICTOR-related neurodevelopmental disorder 39738822 False 1 0;0;100 6.447 False Other ENSG00000164327 ENSG00000164327 HGNC:28611 RMI1 gene RMI1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome like Disorder 30193137 False 1 0;50;50 6.447 False ENSG00000178966 ENSG00000178966 HGNC:25764 RNF113A gene RNF113A DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females X-LINKED TRICHOTHIODYSTROPHY 25612912 False 1 0;50;50 6.447 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF125 gene RNF125 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RNF125-related intellectual disability and macrocephaly, OMIM:616260 34196401;25196541 False 1 0;0;100 6.447 False ENSG00000101695 ENSG00000101695 HGNC:21150 RNF135 gene RNF135 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 17632510 False 1 0;50;50 6.447 False ENSG00000181481 ENSG00000181481 HGNC:21158 RNF168 gene RNF168 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal RIDDLE SYNDROME 611943 False 1 0;50;50 6.447 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNU12 gene RNU12 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal RNU12-related CDAGS syndrome 27863452;34085356 False 1 0;0;100 6.447 False ENSG00000270022 ENSG00000276027 HGNC:19380 RPH3A gene RPH3A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPH3A-related neurodevelopmental disorder 37403762 False 1 0;0;100 6.447 False Other ENSG00000089169 ENSG00000089169 HGNC:17056 RPL13 gene RPL13 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal Dysplasia with Severe Short Stature 31630789 False 1 0;0;100 6.447 False ENSG00000167526 ENSG00000167526 HGNC:10303 RREB1 gene RREB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay 38332451;40418122 False 1 0;0;100 6.447 False ENSG00000124782 ENSG00000124782 HGNC:10449 RRM1 gene RRM1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal RRM1-related mitochondrial DNA depletion/deletions syndrome 35617047 False 1 0;0;100 6.447 False ENSG00000167325 ENSG00000167325 HGNC:10451 RUBCN gene RUBCN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY False 1 0;50;50 6.447 False ENSG00000145016 ENSG00000145016 HGNC:28991 RYR2 gene RYR2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability 30170228 False 1 0;0;100 6.447 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR3 gene RYR3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 25262651 False 1 0;50;50 6.447 False ENSG00000198838 ENSG00000198838 HGNC:10485 SAMD9L gene SAMD9L DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia-Pancytopenia Syndrome 27259050 False 1 0;50;50 6.447 False ENSG00000177409 ENSG00000177409 HGNC:1349 SCNM1 gene SCNM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SCNM1-associated orofaciodigital syndrome 36084634 False 1 0;0;100 6.447 False ENSG00000163156 ENSG00000163156 HGNC:23136 SCRIB gene SCRIB DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 8Q24.3 DELETION-LIKE 24140112 False 1 0;50;50 6.447 False ENSG00000180900 ENSG00000180900 HGNC:30377 SEC23A gene SEC23A DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOLENTICULOSUTURAL DYSPLASIA 607812 16980979 False 1 0;50;50 6.447 False ENSG00000100934 ENSG00000100934 HGNC:10701 SEC61A1 gene SEC61A1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia False 1 0;50;50 6.447 False ENSG00000058262 ENSG00000058262 HGNC:18276 SGSM3 gene SGSM3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SGSM3-related intellectual disability 37833060 False 1 0;0;100 6.447 False ENSG00000100359 ENSG00000100359 HGNC:25228 SH3BP2 gene SH3BP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cherubism, OMIM:118400 11381256 False 1 0;50;50 6.447 False Other ENSG00000087266 ENSG00000087266 HGNC:10825 SIN3B gene SIN3B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SIN3B-related syndromic intellectual disability and autism spectrum disorder 33811806 False 1 0;0;100 6.447 False ENSG00000127511 ENSG00000127511 HGNC:19354 SIX6 gene SIX6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 15266624 False 1 0;50;50 6.447 False ENSG00000184302 ENSG00000184302 HGNC:10892 SLC30A7 gene SLC30A7 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLC30A7-associated Joubert syndrome 35751429 False 1 0;0;100 6.447 False ENSG00000162695 ENSG00000162695 HGNC:19306 SLC35B2 gene SLC35B2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy 35325049 False 1 0;0;100 6.447 False ENSG00000157593 ENSG00000157593 HGNC:16872 SLC9A7 gene SLC9A7 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM:301024 30335141 False 1 0;0;100 6.447 False ENSG00000065923 ENSG00000065923 HGNC:17123 SLC9A9 gene SLC9A9 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUSCEPTIBILITY TO AUTISM TYPE 16 613410 False 1 0;50;50 6.447 False ENSG00000181804 ENSG00000181804 HGNC:20653 SLIRP gene SLIRP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLIRP-related mitochondrial encephalomyopathy 34426662 False 1 0;0;100 6.447 False ENSG00000119705 ENSG00000119705 HGNC:20495 SLIT3 gene SLIT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLIT3-related congenital anomalies 33933663;29100090 False 1 0;0;100 6.447 False ENSG00000184347 ENSG00000184347 HGNC:11087 SMAD2 gene SMAD2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DISEASE 30157302;23665959 False 1 0;50;50 6.447 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD6 gene SMAD6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Non-syndromic craniosynostosis 27606499;28808027 False 1 0;50;50 6.447 False ENSG00000137834 ENSG00000137834 HGNC:6772 SNIP1 gene SNIP1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 22279524 False 1 0;50;50 6.447 False ENSG00000163877 ENSG00000163877 HGNC:30587 SNX3 gene SNX3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA SYNDROMIC TYPE 8 601349 12471201 False 1 0;50;50 6.447 False ENSG00000112335 ENSG00000112335 HGNC:11174 SOBP gene SOBP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 21035105 False 1 0;50;50 6.447 False ENSG00000112320 ENSG00000112320 HGNC:29256 SPRTN gene SPRTN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PROGEROID SYNDROME False 1 0;50;50 6.447 False ENSG00000010072 ENSG00000010072 HGNC:25356 SPRY1 gene SPRY1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SPRY1-associated craniosynostosis with inner ear and renal anomalies 36543535 False 1 0;0;100 6.447 False ENSG00000164056 ENSG00000164056 HGNC:11269 SRGAP3 gene SRGAP3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525 12195014 False 1 0;50;50 6.447 False ENSG00000196220 ENSG00000196220 HGNC:19744 SRPX2 gene SRPX2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females BILATERAL PERISYLVIAN POLYMICROGYRIA 300388;ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 16497722 False 1 0;50;50 6.447 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRSF1 gene SRSF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SRSF1-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000136450 ENSG00000136450 HGNC:10780 STAT2 gene STAT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Recessive gain of function causing increased interferon signalling;Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission 26408653;26122121 False 1 0;50;50 6.447 False ENSG00000170581 ENSG00000170581 HGNC:11363 STIM1 gene STIM1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBULAR-AGGREGATE MYOPATHY 160565 23332920 False 1 0;50;50 6.447 False Other ENSG00000167323 ENSG00000167323 HGNC:11386 STT3B gene STT3B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597 23842455 False 1 0;50;50 6.447 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUMO1 gene SUMO1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLEFT LIP +/- CLEFT PALATE 608874 16990542 False 1 0;50;50 6.447 False ENSG00000116030 ENSG00000116030 HGNC:12502 SUPT16H gene SUPT16H DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUPT16H-related neurodevelopmental disorder 31924697 False 1 0;0;100 6.447 False ENSG00000092201 ENSG00000092201 HGNC:11465 SYNCRIP gene SYNCRIP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNCRIP-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000135316 ENSG00000135316 HGNC:16918 TAF1C gene TAF1C DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TAF1C-related neurodevelopmental disorder 40371665;32779182 False 1 0;0;100 6.447 False ENSG00000103168 ENSG00000103168 HGNC:11534 TAF2 gene TAF2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000064313 ENSG00000064313 HGNC:11536 TAF4 gene TAF4 DD-Gene2Phenotype;Expert Review Red;Literature DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TAF4-related neurodevelopmental disorder;Developmental delay 35904126;33875846 False 1 50;0;50 6.447 False ENSG00000130699 ENSG00000130699 HGNC:11537 TANC2 gene TANC2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TANC2-related neurodevelopmental and psychiatric disorders 31616000 False 1 0;0;100 6.447 False ENSG00000170921 ENSG00000170921 HGNC:30212 TFRC gene TFRC DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency 26642240 False 1 0;50;50 6.447 False ENSG00000072274 ENSG00000072274 HGNC:11763 THG1L gene THG1L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal THG1L-associated cerebellar ataxia, OMIM:618800 30214071;27307223;31168944;33682303 False 1 0;0;100 6.447 False ENSG00000113272 ENSG00000113272 HGNC:26053 TIMM22 gene TIMM22 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TIMM22-related combined oxidative phosphorylation deficiency;OMIM:618851.0 30452684 False 1 0;0;100 6.447 False ENSG00000177370 ENSG00000177370 HGNC:17317 TKFC gene TKFC DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TKFC-related Cataracts and Multisystem Disease 32004446 False 1 0;0;100 6.447 False ENSG00000149476 ENSG00000149476 HGNC:24552 TLL1 gene TLL1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 6 613087 18830233 False 1 0;50;50 6.447 False ENSG00000038295 ENSG00000038295 HGNC:11843 TM4SF20 gene TM4SF20 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPECIFIC LANGUAGE IMPAIRMENT 5 615432 23810381 False 1 0;50;50 6.447 False ENSG00000168955 ENSG00000168955 HGNC:26230 TMEM114 gene TMEM114 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL AND JUVENILE CATARACT 611579 24357539;17492639 False 1 0;50;50 6.447 False ENSG00000232258 ENSG00000232258 HGNC:33227 TMEM135 gene TMEM135 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000166575 ENSG00000166575 HGNC:26167 TMEM184B gene TMEM184B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM184B-related neurodevelopmental disorder 40885185 False 1 0;0;100 6.447 False ENSG00000198792 ENSG00000198792 HGNC:1310 TNPO2 gene TNPO2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TNPO2-related intellectual disability 34314705 False 1 0;0;100 6.447 False ENSG00000105576 ENSG00000105576 HGNC:19998 TPRKB gene TPRKB DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 5, 617731 28805828 False 1 0;50;50 6.447 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAPPC10 gene TRAPPC10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TRAPPC10-associated intellectual disability 30167849 False 1 0;0;100 6.447 False ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC2L gene TRAPPC2L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 32843486;30120216 False 1 0;0;100 6.447 False ENSG00000167515 ENSG00000167515 HGNC:30887 TRIT1 gene TRIT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal tRNA isopentenyltransferase deficiency 32088416;28185376;32948376;31140736;24901367 False 1 0;50;50 6.447 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT1 gene TRMT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000104907 ENSG00000104907 HGNC:25980 TRPC5 gene TRPC5 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females TRPC5-related neurodevelopmental disorder 36323681 False 1 0;0;100 6.447 False ENSG00000072315 ENSG00000072315 HGNC:12337 TSHZ1 gene TSHZ1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AURAL ATRESIA, CONGENITAL 607842 22152683 False 1 0;50;50 6.447 False ENSG00000179981 ENSG00000179981 HGNC:10669 TUBA8 gene TUBA8 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180 19896110 False 1 0;50;50 6.447 False ENSG00000183785 ENSG00000183785 HGNC:12410 UBE3C gene UBE3C DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities 36401616 False 1 0;0;100 6.447 False ENSG00000009335 ENSG00000009335 HGNC:16803 UFSP2 gene UFSP2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UFSP2-associated developmental delay and epilepsy 33473208 False 1 0;0;100 6.447 False ENSG00000109775 ENSG00000109775 HGNC:25640 UHRF1 gene UHRF1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome 36458887 False 1 0;0;100 6.447 False ENSG00000034063 ENSG00000276043 HGNC:12556 UNC79 gene UNC79 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UNC79-related intellectual disability with focal motor seizures 37183800 False 1 0;0;100 6.447 False ENSG00000133958 ENSG00000133958 HGNC:19966 UROC1 gene UROC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UROCANASE DEFICIENCY 276880 19304569 False 1 0;50;50 6.447 False ENSG00000159650 ENSG00000159650 HGNC:26444 UTP4 gene UTP4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306 12417987 False 1 0;50;50 6.447 False ENSG00000141076 ENSG00000141076 HGNC:1983 VAC14 gene VAC14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Progressive neurological disorder and regression of developmental milestones 27292112 False 1 0;50;50 6.447 False ENSG00000103043 ENSG00000103043 HGNC:25507 VANGL1 gene VANGL1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURAL TUBE DEFECTS 182940 17409324 False 1 0;50;50 6.447 False ENSG00000173218 ENSG00000173218 HGNC:15512 VCP gene VCP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VCP-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000165280 ENSG00000165280 HGNC:12666 VIP gene VIP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ASPERGER 23849776 False 1 0;50;50 6.447 False ENSG00000146469 ENSG00000146469 HGNC:12693 WDR4 gene WDR4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 6, 618347 30079490 False 1 0;50;50 6.447 False ENSG00000160193 ENSG00000160193 HGNC:12756 WDR81 gene WDR81 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 21885617 False 1 0;50;50 6.447 False ENSG00000167716 ENSG00000167716 HGNC:26600 XPNPEP3 gene XPNPEP3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 1 33;33;33 6.447 False ENSG00000196236 ENSG00000196236 HGNC:28052 YWHAZ gene YWHAZ DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown YWHAZ-related developmental delay with simplified gyral pattern 36001342 False 1 0;0;100 6.447 False ENSG00000164924 ENSG00000164924 HGNC:12855 ZBTB16 gene ZBTB16 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 False 1 0;50;50 6.447 False ENSG00000109906 ENSG00000109906 HGNC:12930 ZBTB40 gene ZBTB40 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000184677 ENSG00000184677 HGNC:29045 ZBTB47 gene ZBTB47 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures 38327012 False 1 0;0;100 6.447 False ENSG00000114853 ENSG00000114853 HGNC:26955 ZBTB7A gene ZBTB7A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB7A-associated developmental disorder 31645653;34515416 False 1 0;0;100 6.447 False ENSG00000178951 ENSG00000178951 HGNC:18078 ZCCHC8 gene ZCCHC8 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000033030 ENSG00000033030 HGNC:25265 ZDHHC15 gene ZDHHC15 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION X-LINKED TYPE 91 300577 15915161 False 1 0;50;50 6.447 False ENSG00000102383 ENSG00000102383 HGNC:20342 ZEB1 gene ZEB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270;POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 False 1 0;50;50 6.447 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZFPM2 gene ZFPM2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TETRALOGY OF FALLOT 187500;DIAPHRAGMATIC HERNIA 3 610187;46,XY GONADAL DYSGENESIS 16103912;24549039 False 1 0;50;50 6.447 False ENSG00000169946 ENSG00000169946 HGNC:16700 ZMYM6 gene ZMYM6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000163867 ENSG00000163867 HGNC:13050 ZNF407 gene ZNF407 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ZNF407-related Neurodevelopmental Disorder 24907849;32737394 False 1 0;0;100 6.447 False ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF526 gene ZNF526 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 21937992 False 1 0;50;50 6.447 False ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF713 gene ZNF713 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 25196122 False 1 0;50;50 6.447 False ENSG00000178665 ENSG00000178665 HGNC:22043