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 ABCC9 gene ABCC9 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cardiomyopathy, dilated, 1O, 608569Atrial fibrillation, familial, 12, 614050Hypertrichotic osteochondrodysplasia, 239850 False 1 0;0;0 0.1180 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCD4 gene ABCD4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Methylmalonic aciduria and homocystinuria, cblJ type, 614857 False 1 0;0;0 0.1180 False ENSG00000119688 ENSG00000119688 HGNC:68 ABHD5 gene ABHD5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Chanarin-Dorfman syndrome, 275630 False 1 0;0;0 0.1180 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders ACAD9 deficiency, 611126 False 1 0;0;0 0.1180 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACBD6 gene ACBD6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACE2 gene ACE2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130234 ENSG00000130234 HGNC:13557 ACIN1 gene ACIN1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000100813 ENSG00000100813 HGNC:17066 ACOT9 gene ACOT9 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000123130 ENSG00000123130 HGNC:17152 ACOX1 gene ACOX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisomal acyl-CoA oxidase deficiency, 264470 False 1 0;0;0 0.1180 False ENSG00000161533 ENSG00000161533 HGNC:119 ACSF3 gene ACSF3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Combined malonic and methylmalonic aciduria, 614265 False 1 0;0;0 0.1180 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACTB gene ACTB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 False 1 0;0;0 0.1180 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583 False 1 0;0;0 0.1180 False ENSG00000184009 ENSG00000184009 HGNC:144 ACTL6A gene ACTL6A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136518 ENSG00000136518 HGNC:24124 ACTL6B gene ACTL6B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000077080 ENSG00000077080 HGNC:160 ACVR1 gene ACVR1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Fibrodysplasia ossificans progressiva, 135100 False 1 0;0;0 0.1180 False ENSG00000115170 ENSG00000115170 HGNC:171 ACY1 gene ACY1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aminoacylase 1 deficiency, 609924;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000243989 ENSG00000243989 HGNC:177 ADAR gene ADAR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010 False 1 0;0;0 0.1180 False ENSG00000160710 ENSG00000160710 HGNC:225 ADGRG1 gene ADGRG1 Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Polymicrogyria, bilateral frontoparietal, 606854;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG4 gene ADGRG4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000156920 ENSG00000156920 HGNC:18992 ADK gene ADK Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hypermethioninemia due to adenosine kinase deficiency, 614300;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000156110 ENSG00000156110 HGNC:257 ADRA2B gene ADRA2B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000222040 ENSG00000274286 HGNC:282 ADSL gene ADSL Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders ade(-)I bifunctional Adenylosuccinase deficiency, 103050;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000239900 ENSG00000239900 HGNC:291 AGO1 gene AGO1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000092847 ENSG00000092847 HGNC:3262 AGPAT2 gene AGPAT2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lipodystrophy, congenital generalized, type 1, 608594 False 1 0;0;0 0.1180 False ENSG00000169692 ENSG00000169692 HGNC:325 AGTR2 gene AGTR2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 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 88, 300852;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000180772 ENSG00000180772 HGNC:338 AHCY gene AHCY Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 False 1 0;0;0 0.1180 False ENSG00000101444 ENSG00000101444 HGNC:343 AHI1 gene AHI1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome-3, 608629 False 1 0;0;0 0.1180 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490 False 1 0;0;0 0.1180 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukodystrophy, hypomyelinating, 3, 260600;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000164022 ENSG00000164022 HGNC:10648 AK1 gene AK1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;0;0 0.1180 False ENSG00000106992 ENSG00000106992 HGNC:361 AKAP17A gene AKAP17A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000197976 ENSG00000197976 HGNC:18783 AKAP4 gene AKAP4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147081 ENSG00000147081 HGNC:374 AKR1C2 gene AKR1C2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Obesity, hyperphagia, and developmental delay46XY sex reversal 8, 614279 False 1 0;0;0 0.1180 False ENSG00000151632 ENSG00000151632 HGNC:385 AKT3 gene AKT3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 False 1 0;0;0 0.1180 False ENSG00000117020 ENSG00000117020 HGNC:393 ALDH18A1 gene ALDH18A1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cutis laxa, autosomal recessive, type IIIA, 219150;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Sjogren-Larsson syndrome, 270200 False 1 0;0;0 0.1180 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hyperprolinemia, type II, 239510;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Succinic semialdehyde dehydrogenase deficiency, 271980;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000112294 ENSG00000112294 HGNC:408 ALG1 gene ALG1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type Ik, 608540;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG12 gene ALG12 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG3 gene ALG3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALX1 gene ALX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Frontonasal dysplasia 3, 613456 False 1 0;0;0 0.1180 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX4 gene ALX4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Parietal foramina 2, 609597Frontonasal dysplasia 2, 613451 False 1 0;0;0 0.1180 False ENSG00000052850 ENSG00000052850 HGNC:450 AMT gene AMT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Glycine encephalopathy, 605899 False 1 0;0;0 0.1180 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK3 gene ANK3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000151150 ENSG00000151150 HGNC:494 ANKH gene ANKH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600 False 1 0;0;0 0.1180 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders KBG syndrome, 148050 False 1 0;0;0 0.1180 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO10 gene ANO10 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spinocerebellar ataxia, autosomal recessive 10, 613728 False 1 0;0;0 0.1180 False ENSG00000160746 ENSG00000160746 HGNC:25519 AP3B1 gene AP3B1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hermansky-Pudlak syndrome 2, 608233 False 1 0;0;0 0.1180 False ENSG00000132842 ENSG00000132842 HGNC:566 AP4B1 gene AP4B1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 47, autosomal recessive, 614066;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 51, autosomal recessive, 613744;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 50, autosomal recessive, 612936;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 52, autosomal recessive, 614067;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000100478 ENSG00000100478 HGNC:575 APTX gene APTX Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 False 1 0;0;0 0.1180 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARFGEF2 gene ARFGEF2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Periventricular heterotopia with microcephaly, 608097;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Argininemia, 207800;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGAP36 gene ARHGAP36 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147256 ENSG00000147256 HGNC:26388 ARHGAP6 gene ARHGAP6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000047648 ENSG00000047648 HGNC:676 ARHGEF4 gene ARHGEF4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136002 ENSG00000136002 HGNC:684 ARID1A gene ARID1A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 14, 614607;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 12, 614562;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000189079 ENSG00000189079 HGNC:18037 ARIH1 gene ARIH1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000166233 ENSG00000166233 HGNC:689 ARL13B gene ARL13B Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 8, 612291 False 1 0;0;0 0.1180 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL14EP gene ARL14EP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000152219 ENSG00000152219 HGNC:26798 ARL6 gene ARL6 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575 False 1 0;0;0 0.1180 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARSF gene ARSF Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000062096 ENSG00000062096 HGNC:721 ASB12 gene ASB12 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000198881 ENSG00000198881 HGNC:19763 ASCC3 gene ASCC3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000112249 ENSG00000112249 HGNC:18697 ASCL1 gene ASCL1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000139352 ENSG00000139352 HGNC:738 ASH1L gene ASH1L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Argininosuccinic aciduria, 207900 False 1 0;0;0 0.1180 False ENSG00000126522 ENSG00000126522 HGNC:746 ASMT gene ASMT Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000196433 ENSG00000196433 HGNC:750 ASMTL gene ASMTL Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000169093 ENSG00000169093 HGNC:751 ASPA gene ASPA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Canavan disease, 271900 False 1 0;0;0 0.1180 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 5, primary, autosomal recessive, 608716 False 1 0;0;0 0.1180 False ENSG00000066279 ENSG00000066279 HGNC:19048 ASXL1 gene ASXL1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATIC gene ATIC Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders AICA-ribosiduria due to ATIC deficiency, 608688 False 1 0;0;0 0.1180 False ENSG00000138363 ENSG00000138363 HGNC:794 ATM gene ATM Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A2 gene ATP1A2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Migraine, familial hemiplegic, 2, 602481Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481 False 1 0;0;0 0.1180 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP2A2 gene ATP2A2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Darier disease, 124200Acrokeratosis verruciformis, 101900 False 1 0;0;0 0.1180 False ENSG00000174437 ENSG00000174437 HGNC:812 ATP2B3 gene ATP2B3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP6V0A2 gene ATP6V0A2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cutis laxa, autosomal recessive, type IIA, 219200Wrinkly skin syndrome, 278250 False 1 0;0;0 0.1180 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATR gene ATR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564 False 1 0;0;0 0.1180 False ENSG00000175054 ENSG00000175054 HGNC:882 ATXN3L gene ATXN3L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000123594 ENSG00000123594 HGNC:24173 AUH gene AUH Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3-methylglutaconic aciduria, type I, 250950;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000148090 ENSG00000148090 HGNC:890 AVPR2 gene AVPR2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000126895 ENSG00000126895 HGNC:897 AWAT2 gene AWAT2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147160 ENSG00000147160 HGNC:23251 B4GALT1 gene B4GALT1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IId, 607091 False 1 0;0;0 0.1180 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ehlers-Danlos syndrome, progeroid type, 1, 130070 False 1 0;0;0 0.1180 False ENSG00000027847 ENSG00000027847 HGNC:930 BBS1 gene BBS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 1, 209900 False 1 0;0;0 0.1180 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 10, 209900 False 1 0;0;0 0.1180 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 12, 209900 False 1 0;0;0 0.1180 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 2, 209900 False 1 0;0;0 0.1180 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 4, 209900 False 1 0;0;0 0.1180 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 5, 209900 False 1 0;0;0 0.1180 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 7, 209900 False 1 0;0;0 0.1180 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 9, 209900 False 1 0;0;0 0.1180 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCKDHA gene BCKDHA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Maple syrup urine disease, type Ia, 248600 False 1 0;0;0 0.1180 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Maple syrup urine disease, type Ib, 248600 False 1 0;0;0 0.1180 False ENSG00000083123 ENSG00000083123 HGNC:987 BCORL1 gene BCORL1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000085185 ENSG00000085185 HGNC:25657 BCS1L gene BCS1L Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000;GRACILE syndrome, 603358 False 1 0;0;0 0.1180 False ENSG00000074582 ENSG00000074582 HGNC:1020 BDP1 gene BDP1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000145734 ENSG00000145734 HGNC:13652 BLM gene BLM Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bloom syndrome, 210900 False 1 0;0;0 0.1180 False ENSG00000197299 ENSG00000197299 HGNC:1058 BMP15 gene BMP15 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130385 ENSG00000130385 HGNC:1068 BRAF gene BRAF Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000157764 ENSG00000157764 HGNC:1097 BSCL2 gene BSCL2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lipodystrophy, congenital generalized, type 2, 269700Silver spastic paraplegia syndrome, 270685Neuropathy, distal hereditary motor, type V, 600794 False 1 0;0;0 0.1180 False ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Biotinidase deficiency, 253260 False 1 0;0;0 0.1180 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTK gene BTK Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000010671 ENSG00000010671 HGNC:1133 BUB1B gene BUB1B Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430 False 1 0;0;0 0.1180 False ENSG00000156970 ENSG00000156970 HGNC:1149 C12orf57 gene C12orf57 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Temtamy syndrome, 218340;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000111678 ENSG00000111678 HGNC:29521 C5orf42 gene C5orf42 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.1180 False ENSG00000197603 ENSG00000197603 HGNC:25801 CA2 gene CA2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 False 1 0;0;0 0.1180 False ENSG00000104267 ENSG00000104267 HGNC:1373 CA8 gene CA8 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1C gene CACNA1C Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Timothy syndrome, 601005Brugada syndrome 3, 611875 False 1 0;0;0 0.1180 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1F gene CACNA1F Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA1G gene CACNA1G Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000006283 ENSG00000006283 HGNC:1394 CACNG2 gene CACNG2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 10, 614256 False 1 0;0;0 0.1180 False ENSG00000166862 ENSG00000166862 HGNC:1406 CAMK2A gene CAMK2A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2G gene CAMK2G Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAP1 gene CAP1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000131236 ENSG00000131236 HGNC:20040 CAPN10 gene CAPN10 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000142330 ENSG00000142330 HGNC:1477 CASP2 gene CASP2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000106144 ENSG00000106144 HGNC:1503 CBL gene CBL Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 False 1 0;0;0 0.1180 False ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Homocystinuria, B6-responsive and nonresponsive types, 236200Thrombosis, hyperhomocysteinemic, 236200 False 1 0;0;0 0.1180 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D1A gene CC2D1A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 3, 608443;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hennekam lymphangiectasia-lymphedema syndrome, 235510 False 1 0;0;0 0.1180 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC22 gene CCDC22 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC78 gene CCDC78 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Myopathy, centronuclear, 4, 614807 False 1 0;0;0 0.1180 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCNA2 gene CCNA2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000145386 ENSG00000145386 HGNC:1578 CCNB3 gene CCNB3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147082 ENSG00000147082 HGNC:18709 CD99 gene CD99 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000002586 ENSG00000002586 HGNC:7082 CDH15 gene CDH15 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 3, 612580;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000129910 ENSG00000129910 HGNC:1754 CDK16 gene CDK16 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000102225 ENSG00000102225 HGNC:8749 CDK5RAP2 gene CDK5RAP2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 3, primary, autosomal recessive, 604804 False 1 0;0;0 0.1180 False ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000132964 ENSG00000132964 HGNC:1779 CDON gene CDON Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holoprosencephaly 11, 614226 False 1 0;0;0 0.1180 False ENSG00000064309 ENSG00000064309 HGNC:17104 CENPJ gene CENPJ Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676 False 1 0;0;0 0.1180 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP135 gene CEP135 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 8, primary, autosomal recessive, 614673 False 1 0;0;0 0.1180 False ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823 False 1 0;0;0 0.1180 False ENSG00000103995 ENSG00000103995 HGNC:29298 CEP290 gene CEP290 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900 False 1 0;0;0 0.1180 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 15, 614464;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFAP47 gene CFAP47 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165164 ENSG00000165164 HGNC:26708 CFP gene CFP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000126759 ENSG00000126759 HGNC:8864 CHD2 gene CHD2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, childhood-onset, 615369;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD7 gene CHD7 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHL1 gene CHL1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000134121 ENSG00000134121 HGNC:1939 CLCN4 gene CLCN4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN5 gene CLCN5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKB gene CLCNKB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090 False 1 0;0;0 0.1180 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLN3 gene CLN3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 3, 204200 False 1 0;0;0 0.1180 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 5, 256731 False 1 0;0;0 0.1180 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 1 0;0;0 0.1180 False ENSG00000128973 ENSG00000128973 HGNC:2077 CMC4 gene CMC4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182712 ENSG00000182712 HGNC:35428 CNKSR1 gene CNKSR1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000142675 ENSG00000142675 HGNC:19700 CNKSR2 gene CNKSR2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000149970 ENSG00000149970 HGNC:19701 COG1 gene COG1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIg, 611209 False 1 0;0;0 0.1180 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG7 gene COG7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIe, 608779 False 1 0;0;0 0.1180 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIh, 611182 False 1 0;0;0 0.1180 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL4A1 gene COL4A1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519 False 1 0;0;0 0.1180 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519 False 1 0;0;0 0.1180 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000113163 ENSG00000113163 HGNC:2205 COL4A6 gene COL4A6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000197565 ENSG00000197565 HGNC:2208 COLEC11 gene COLEC11 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3MC syndrome 2, 265050 False 1 0;0;0 0.1180 False ENSG00000118004 ENSG00000118004 HGNC:17213 COQ2 gene COQ2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Coenzyme Q10 deficiency, primary, 1, 607426{Multiple system atrophy, susceptibility to}, 146500 False 1 0;0;0 0.1180 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ5 gene COQ5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ8A gene COQ8A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Coenzyme Q10 deficiency, primary, 4, 612016;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX10 gene COX10 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 False 1 0;0;0 0.1180 False ENSG00000014919 ENSG00000014919 HGNC:2263 CPS1 gene CPS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation} False 1 0;0;0 0.1180 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPXCR1 gene CPXCR1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147183 ENSG00000147183 HGNC:2332 CRBN gene CRBN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 2, 607417 False 1 0;0;0 0.1180 False ENSG00000113851 ENSG00000113851 HGNC:30185 CREBBP gene CREBBP Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Rubinstein-Taybi syndrome, 180849;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRLF2 gene CRLF2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000205755 ENSG00000205755 HGNC:14281 CSF2RA gene CSF2RA Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSTF2 gene CSTF2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101811 ENSG00000101811 HGNC:2484 CTDP1 gene CTDP1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital cataracts, facial dysmorphism, and neuropathy, 604168 False 1 0;0;0 0.1180 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTNNB1 gene CTNNB1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTPS2 gene CTPS2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000047230 ENSG00000047230 HGNC:2520 CTSA gene CTSA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Galactosialidosis, 256540 False 1 0;0;0 0.1180 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 10, 610127;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTTNBP2 gene CTTNBP2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000077063 ENSG00000077063 HGNC:15679 CUX2 gene CUX2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000111249 ENSG00000111249 HGNC:19347 CXorf58 gene CXorf58 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165182 ENSG00000165182 HGNC:26356 CYB5R3 gene CYB5R3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800 False 1 0;0;0 0.1180 False ENSG00000100243 ENSG00000100243 HGNC:2873 CYP7B1 gene CYP7B1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders D-2-hydroxyglutaric aciduria, 600721 False 1 0;0;0 0.1180 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS2 gene DARS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 False 1 0;0;0 0.1180 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBT gene DBT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Maple syrup urine disease, type II, 248600 False 1 0;0;0 0.1180 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Woodhouse-Sakati syndrome, 241080 False 1 0;0;0 0.1180 False ENSG00000115827 ENSG00000115827 HGNC:25784 DCHS2 gene DCHS2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000197410 ENSG00000197410 HGNC:23111 DDHD2 gene DDHD2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 54, autosomal recessive, 615033 False 1 0;0;0 0.1180 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDOST gene DDOST Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDX3X gene DDX3X Candidate gene (Grozeva et al, 2015);Expert Review; Literature Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ID, microcephaly;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX53 gene DDX53 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000184735 ENSG00000184735 HGNC:20083 DEAF1 gene DEAF1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000177030 ENSG00000177030 HGNC:14677 DGKH gene DGKH Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102780 ENSG00000102780 HGNC:2854 DHCR24 gene DHCR24 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Desmosterolosis, 602398 False 1 0;0;0 0.1180 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Smith-Lemli-Opitz syndrome, 270400;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR gene DHFR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 0;0;0 0.1180 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHRSX gene DHRSX Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHTKD1 gene DHTKD1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 2-aminoadipic 2-oxoadipic aciduria, 204750Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 False 1 0;0;0 0.1180 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX30 gene DHX30 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH2 gene DIAPH2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147202 ENSG00000147202 HGNC:2877 DIP2B gene DIP2B Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, FRA12A type, 136630 False 1 0;0;0 0.1180 False ENSG00000066084 ENSG00000066084 HGNC:29284 DLD gene DLD Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dihydrolipoamide dehydrogenase deficiency, 246900 False 1 0;0;0 0.1180 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLG1 gene DLG1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLG2 gene DLG2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000150672 ENSG00000150672 HGNC:2901 DLG4 gene DLG4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000132535 ENSG00000132535 HGNC:2903 DMPK gene DMPK Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Myotonic dystrophy 1, 160900 False 1 0;0;0 0.1180 False ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJC19 gene DNAJC19 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3-methylglutaconic aciduria, type V, 610198 False 1 0;0;0 0.1180 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNMT3B gene DNMT3B Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK11 gene DOCK11 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147251 ENSG00000147251 HGNC:23483 DOCK8 gene DOCK8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 False 1 0;0;0 0.1180 False ENSG00000107099 ENSG00000107099 HGNC:19191 DPAGT1 gene DPAGT1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 False 1 0;0;0 0.1180 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPF1 gene DPF1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000011332 ENSG00000011332 HGNC:20225 DPF2 gene DPF2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000133884 ENSG00000133884 HGNC:9964 DPF3 gene DPF3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000205683 ENSG00000205683 HGNC:17427 DPM1 gene DPM1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type Ie, 608799 False 1 0;0;0 0.1180 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPYD gene DPYD Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270 False 1 0;0;0 0.1180 False ENSG00000188641 ENSG00000188641 HGNC:3012 DST gene DST Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 False 1 0;0;0 0.1180 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYM gene DYM Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326 False 1 0;0;0 0.1180 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYRK1A gene DYRK1A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 7, 614104;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000157540 ENSG00000157540 HGNC:3091 EEF1A2 gene EEF1A2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101210 ENSG00000101210 HGNC:3192 EEF1B2 gene EEF1B2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000114942 ENSG00000114942 HGNC:3208 EFTUD2 gene EFTUD2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mandibulofacial dysostosis, Guion-Almeida type, 610536 False 1 0;0;0 0.1180 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2AK3 gene EIF2AK3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Wolcott-Rallison syndrome, 226980 False 1 0;0;0 0.1180 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2S3 gene EIF2S3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130741 ENSG00000130741 HGNC:3267 ELK1 gene ELK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000126767 ENSG00000126767 HGNC:3321 ELOVL4 gene ELOVL4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457 False 1 0;0;0 0.1180 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELP2 gene ELP2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000134759 ENSG00000134759 HGNC:18248 EMX2 gene EMX2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Schizencephaly, 269160 False 1 0;0;0 0.1180 False ENSG00000170370 ENSG00000170370 HGNC:3341 ENOX2 gene ENOX2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165675 ENSG00000165675 HGNC:2259 ENTPD1 gene ENTPD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000138185 ENSG00000138185 HGNC:3363 EP300 gene EP300 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPB41L1 gene EPB41L1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 11, 614257 False 1 0;0;0 0.1180 False ENSG00000088367 ENSG00000088367 HGNC:3378 EPPK1 gene EPPK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000227184 ENSG00000261150 HGNC:15577 ERCC2 gene ERCC2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 False 1 0;0;0 0.1180 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675 False 1 0;0;0 0.1180 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 False 1 0;0;0 0.1180 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621 False 1 0;0;0 0.1180 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERLIN2 gene ERLIN2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 18, autosomal recessive, 611225;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000147475 ENSG00000147475 HGNC:1356 ESCO2 gene ESCO2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Roberts syndrome, 268300SC phocomelia syndrome, 269000 False 1 0;0;0 0.1180 False ENSG00000171320 ENSG00000171320 HGNC:27230 ESX1 gene ESX1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000123576 ENSG00000123576 HGNC:14865 ETHE1 gene ETHE1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ethylmalonic encephalopathy, 602473 False 1 0;0;0 0.1180 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000107371 ENSG00000107371 HGNC:17944 FAAH2 gene FAAH2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165591 ENSG00000165591 HGNC:26440 FAM120C gene FAM120C Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000184083 ENSG00000184083 HGNC:16949 FAM126A gene FAM126A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukodystrophy, hypomyelinating, 5, 610532 False 1 0;0;0 0.1180 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM47B gene FAM47B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000189132 ENSG00000189132 HGNC:26659 FAM58A gene FAM58A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCB gene FANCB Emory Genetics Laboratory Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 0.1180 False ENSG00000181544 ENSG00000181544 HGNC:3583 FASN gene FASN Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000169710 ENSG00000169710 HGNC:3594 FBN1 gene FBN1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Marfan syndrome, 154700Ectopia lentis, familial, 129600MASS syndrome, 604308Weill-Marchesani syndrome 2, dominant, 608328Aortic aneurysm, ascending, and dissectionStiff skin syndrome, 184900Acromicric dysplasia, 102370Geleophysic dysplasia 2, 614185 False 1 0;0;0 0.1180 False ENSG00000166147 ENSG00000166147 HGNC:3603 FGFR1 gene FGFR1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pfeiffer syndrome, 101600Jackson-Weiss syndrome, 123150Hypogonadotropic hypogonadism 2 with or without anosmia, 147950Osteoglophonic dysplasia, 166250Trigonocephaly 1, 190440Hartsfield syndrome, 615465 False 1 0;0;0 0.1180 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Crouzon syndrome, 123500Jackson-Weiss syndrome, 123150Beare-Stevenson cutis gyrata syndrome, 123790Pfeiffer syndrome, 101600Apert syndrome, 101200Saethre-Chotzen syndrome, 101400Craniosynostosis, nonspecificGastric cancer, somatic, 613659Craniofacial-skeletal-dermatologic dysplasia, 101600Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410Scaphocephaly and Axenfeld-Rieger anomalyLADD syndrome, 149730Scaphocephaly, maxillary retrusion, and mental retardation, 609579Bent bone dysplasia syndrome, 614592 False 1 0;0;0 0.1180 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Achondroplasia, 100800Hypochondroplasia, 146000Thanatophoric dysplasia, type I, 187600Crouzon syndrome with acanthosis nigricans, 612247Muenke syndrome, 602849Bladder cancer, somatic, 109800Colorectal cancer, somatic, 114500Cervical cancer, somatic, 603956LADD syndrome, 149730CATSHL syndrome, 610474Nevus, epidermal, somatic, 162900Thanatophoric dysplasia, type II, 187601Spermatocytic seminoma, somatic, 273300 False 1 0;0;0 0.1180 False ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Fumarase deficiency, 606812Leiomyomatosis and renal cell cancer, 150800 False 1 0;0;0 0.1180 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKBPL gene FKBPL Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000204315 ENSG00000204315 HGNC:13949 FKRP gene FKRP Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5,606612Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000106692 ENSG00000106692 HGNC:3622 FOXG1 gene FOXG1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Rett syndrome, congenital variant, 613454;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXP2 gene FOXP2 Emory Genetics Laboratory Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Speech-Language Disorder 1 False 1 0;0;0 0.1180 False ENSG00000128573 ENSG00000128573 HGNC:13875 FRAS1 gene FRAS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Fraser syndrome, 219000 False 1 0;0;0 0.1180 False ENSG00000138759 ENSG00000138759 HGNC:19185 FRMPD4 gene FRMPD4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000169933 ENSG00000169933 HGNC:29007 FRY gene FRY Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000073910 ENSG00000073910 HGNC:20367 FTL gene FTL Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUCA1 gene FUCA1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Fucosidosis, 230000 False 1 0;0;0 0.1180 False ENSG00000179163 ENSG00000179163 HGNC:4006 GAB3 gene GAB3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000160219 ENSG00000160219 HGNC:17515 GABRQ gene GABRQ Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147402 ENSG00000268089 HGNC:14454 GAD1 gene GAD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebral palsy, spastic quadriplegic, 1, 603513;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALE gene GALE Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Galactose epimerase deficiency, 230350 False 1 0;0;0 0.1180 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALT gene GALT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Galactosemia, 230400 False 1 0;0;0 0.1180 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebral creatine deficiency syndrome 2, 612736 False 1 0;0;0 0.1180 False ENSG00000130005 ENSG00000130005 HGNC:4136 GATAD2B gene GATAD2B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 18, 615074;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebral creatine deficiency syndrome 3, 612718 False 1 0;0;0 0.1180 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCDH gene GCDH Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Glycine encephalopathy, 605899 False 1 0;0;0 0.1180 False ENSG00000140905 ENSG00000140905 HGNC:4208 GFAP gene GFAP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Alexander disease, 203450 False 1 0;0;0 0.1180 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 False 1 0;0;0 0.1180 False ENSG00000127554 ENSG00000127554 HGNC:4236 GJB1 gene GJB1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 False 1 0;0;0 0.1180 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukodystrophy, hypomyelinating, 2, 608804Spastic paraplegia 44, autosomal recessive, 613206Lymphedema, hereditary, IC, 613480;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Glycine encephalopathy, 605899 False 1 0;0;0 0.1180 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLI2 gene GLI2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holoprosencephaly-9, 610829 False 1 0;0;0 0.1180 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800 False 1 0;0;0 0.1180 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA2 gene GLRA2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101958 ENSG00000101958 HGNC:4327 GM2A gene GM2A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders GM2-gangliosidosis, AB variant, 272750;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPB gene GMPPB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 False 1 0;0;0 0.1180 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNAS gene GNAS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pseudohypoparathyroidism Ia, 103580McCune-Albright syndrome, 174800Pseudohypoparathyroidism Ic, 612462Osseous heteroplasia, progressive, 166350Pseudohypoparathyroidism Ib, 603233Prolonged bleeding time, brachydactyly and mental retardationAcromegaly, 102200Pseudopseudohypoparathyroidism, 612463Prolonged bleeding time, brachydactyly, and mental retardationACTH-independent macronodular adrenal hyperplasia, 219080 False 1 0;0;0 0.1180 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPAT gene GNPAT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Chondrodysplasia punctata, rhizomelic, type 2, 222765 False 1 0;0;0 0.1180 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNS gene GNS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mucopolysaccharidosis type IIID, 252940 False 1 0;0;0 0.1180 False ENSG00000135677 ENSG00000135677 HGNC:4422 GON4L gene GON4L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000116580 ENSG00000116580 HGNC:25973 GPHN gene GPHN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Molybdenum cofactor deficiency, type C, 252150 False 1 0;0;0 0.1180 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPRASP1 gene GPRASP1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000198932 ENSG00000198932 HGNC:24834 GRB14 gene GRB14 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000115290 ENSG00000115290 HGNC:4565 GRIA1 gene GRIA1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000155511 ENSG00000155511 HGNC:4571 GRIA2 gene GRIA2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIK2 gene GRIK2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive, 6, 611092;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 8, 614254 False 1 0;0;0 0.1180 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epilepsy with neurodevelopmental defects, 613971;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRM1 gene GRM1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spinocerebellar ataxia, autosomal recessive 13, 614831 False 1 0;0;0 0.1180 False ENSG00000152822 ENSG00000152822 HGNC:4593 GSPT2 gene GSPT2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000189369 ENSG00000189369 HGNC:4622 GSS gene GSS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 False 1 0;0;0 0.1180 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTF2H5 gene GTF2H5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Trichothiodystrophy, complementation group A, 601675 False 1 0;0;0 0.1180 False ENSG00000272047 ENSG00000272047 HGNC:21157 GTPBP8 gene GTPBP8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000163607 ENSG00000163607 HGNC:25007 GUSB gene GUSB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mucopolysaccharidosis VII, 253220 False 1 0;0;0 0.1180 False ENSG00000169919 ENSG00000169919 HGNC:4696 HAUS7 gene HAUS7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000213397 ENSG00000213397 HGNC:32979 HAX1 gene HAX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Neutropenia, severe congenital 3, autosomal recessive, 610738 False 1 0;0;0 0.1180 False ENSG00000143575 ENSG00000143575 HGNC:16915 HDAC4 gene HDAC4 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Brachydactyly-mental retardation syndrome, 600430;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000068024 ENSG00000068024 HGNC:14063 HDAC6 gene HDAC6 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,300863 False 1 0;0;0 0.1180 False ENSG00000094631 ENSG00000094631 HGNC:14064 HDAC8 gene HDAC8 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000147099 ENSG00000147099 HGNC:13315 HESX1 gene HESX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Septooptic dysplasia, 182230Pituitary hormone deficiency, combined, 5, 182230Growth hormone deficiency with pituitary anomalies, 182230 False 1 0;0;0 0.1180 False ENSG00000163666 ENSG00000163666 HGNC:4877 HEXA gene HEXA Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Tay-Sachs disease, 272800GM2-gangliosidosis, several forms, 272800[Hex A pseudodeficiency], 272800;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Sandhoff disease, infantile, juvenile, and adult forms, 268800;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIST1H4B gene HIST1H4B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000124529 ENSG00000278705 HGNC:4789 HIST3H3 gene HIST3H3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000168148 ENSG00000168148 HGNC:4778 HIVEP2 gene HIVEP2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000010818 ENSG00000010818 HGNC:4921 HLCS gene HLCS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holocarboxylase synthetase deficiency, 253270 False 1 0;0;0 0.1180 False ENSG00000159267 ENSG00000159267 HGNC:4976 HNRNPU gene HNRNPU Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders No OMIM phenotypeDevelopmental delay and intellectual disability (King (2014) Genome Res 24, 673)Infantile spasms (Du (2014) BMC Med Genet 15, 62)Speech delay, seizures & CNS anomalies (Caliebe (2010) Eur J Med Genet 53, 179)Seizures (Ballif (2012) Hum Genet 131, 145)Epileptic encephalopathy (Mefford (2011) Ann Neurol 70, 974)Intellectual disability & seizures (Thierry (2012) Am J Med Genet A 158A, 1633)Thin corpus callosum, psychomotor delay & seizures (Selmer (2012) Eur J Med Genet 55,715) False 1 0;0;0 0.1180 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOXA1 gene HOXA1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536 False 1 0;0;0 0.1180 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPD gene HPD Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Tyrosinemia, type III, 276710Hawkinsinuria, 140350 False 1 0;0;0 0.1180 False ENSG00000158104 ENSG00000158104 HGNC:5147 HRAS gene HRAS Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000174775 ENSG00000174775 HGNC:5173 HS6ST2 gene HS6ST2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000171004 ENSG00000171004 HGNC:19133 HSPD1 gene HSPD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 13, autosomal dominant, 605280Leukodystrophy, hypomyelinating, 4, 612233;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000144381 ENSG00000144381 HGNC:5261 IDUA gene IDUA Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly, epilepsy, and diabetes syndrome, 614231 False 1 0;0;0 0.1180 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFNAR2 gene IFNAR2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000159110 ENSG00000159110 HGNC:5433 IGF1 gene IGF1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 False 1 0;0;0 0.1180 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGSF1 gene IGSF1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000147255 ENSG00000147255 HGNC:5948 IKBKG gene IKBKG Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL3RA gene IL3RA Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000185291 ENSG00000185291 HGNC:6012 INF2 gene INF2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455 False 1 0;0;0 0.1180 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP4A gene INPP4A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5E gene INPP5E Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156Joubert syndrome 1, 213300;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000148384 ENSG00000148384 HGNC:21474 INTS6L gene INTS6L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165359 ENSG00000165359 HGNC:27334 IRAK1 gene IRAK1 UKGTN Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lubs X-Linked Mental Retardation Syndrome; MRXSL False 1 0;0;0 0.1180 False ENSG00000184216 ENSG00000184216 HGNC:6112 ISPD gene ISPD Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 False 1 0;0;0 0.1180 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA4 gene ITGA4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000115232 ENSG00000115232 HGNC:6140 ITIH6 gene ITIH6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102313 ENSG00000102313 HGNC:28907 JAM3 gene JAM3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 False 1 0;0;0 0.1180 False ENSG00000166086 ENSG00000166086 HGNC:15532 KANK1 gene KANK1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000107104 ENSG00000107104 HGNC:19309 KAT6B gene KAT6B Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders SBBYSS syndrome, 603736Genitopatellar syndrome, 606170;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000156650 ENSG00000156650 HGNC:17582 KCNC3 gene KCNC3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND1 gene KCND1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102057 ENSG00000102057 HGNC:6237 KCNH1 gene KCNH1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNJ11 gene KCNJ11 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582 False 1 0;0;0 0.1180 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNK12 gene KCNK12 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000184261 ENSG00000184261 HGNC:6274 KCNQ2 gene KCNQ2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720 False 1 0;0;0 0.1180 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNT1 gene KCNT1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005 False 1 0;0;0 0.1180 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD7 gene KCTD7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 False 1 0;0;0 0.1180 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDM1A gene KDM1A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDM5A gene KDM5A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000073614 ENSG00000073614 HGNC:9886 KDM6A gene KDM6A Eligibility statement prior genetic testing Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Kabuki syndrome 2, 300867;Kabuki syndrome False 1 0;0;0 0.1180 False ENSG00000147050 ENSG00000147050 HGNC:12637 KDM6B gene KDM6B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000132510 ENSG00000132510 HGNC:29012 KIF11 gene KIF11 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 False 1 0;0;0 0.1180 False ENSG00000138160 ENSG00000138160 HGNC:6388 KIF1BP gene KIF1BP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Goldberg-Shprintzen megacolon syndrome, 609460 False 1 0;0;0 0.1180 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF26B gene KIF26B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000162849 ENSG00000162849 HGNC:25484 KIF4A gene KIF4A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000090889 ENSG00000090889 HGNC:13339 KIF5C gene KIF5C Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIRREL3 gene KIRREL3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 4, 612581;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000149571 ENSG00000149571 HGNC:23204 KLF8 gene KLF8 Emory Genetics Laboratory Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 0.1180 False ENSG00000102349 ENSG00000102349 HGNC:6351 KLHL15 gene KLHL15 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000174010 ENSG00000174010 HGNC:29347 KLHL21 gene KLHL21 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000162413 ENSG00000162413 HGNC:29041 KLHL34 gene KLHL34 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000185915 ENSG00000185915 HGNC:26634 KLHL4 gene KLHL4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102271 ENSG00000102271 HGNC:6355 KMT2C gene KMT2C Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Eligibility statement prior genetic testing;Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Kabuki syndrome;Intellectual disability 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lung cancer, somatic, 211980Bladder cancer, somatic, 109800Pancreatic carcinoma, somatic, 260350Gastric cancer, somatic, 137215Leukemia, acute myelogenousNoonan syndrome 3, 609942Cardiofaciocutaneous syndrome 2, 615278Breast cancer, somatic, 114480SFM syndrome, somatic mosaic, 163200;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000133703 ENSG00000133703 HGNC:6407 L2HGDH gene L2HGDH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders L-2-hydroxyglutaric aciduria, 236792 False 1 0;0;0 0.1180 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA1 gene LAMA1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 False 1 0;0;0 0.1180 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMC3 gene LAMC3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cortical malformations, occipital, 614115 False 1 0;0;0 0.1180 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARP7 gene LARP7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Alazami syndrome, 615071;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000174720 ENSG00000174720 HGNC:24912 LAS1L gene LAS1L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000001497 ENSG00000001497 HGNC:25726 LHFPL3 gene LHFPL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000187416 ENSG00000187416 HGNC:6589 LIG4 gene LIG4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 False 1 0;0;0 0.1180 False ENSG00000174405 ENSG00000174405 HGNC:6601 LIMK1 gene LIMK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000106683 ENSG00000106683 HGNC:6613 LINS1 gene LINS1 Other Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Unknown Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000140471 ENSG00000140471 HGNC:30922 LRP1 gene LRP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000123384 ENSG00000123384 HGNC:6692 LRP2 gene LRP2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Donnai-Barrow syndrome, 222448;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRPPRC gene LRPPRC Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome, French-Canadian type, 220111 False 1 0;0;0 0.1180 False ENSG00000138095 ENSG00000138095 HGNC:15714 LRRK1 gene LRRK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000154237 ENSG00000154237 HGNC:18608 MAGEA11 gene MAGEA11 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000185247 ENSG00000185247 HGNC:6798 MAGEB1 gene MAGEB1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000214107 ENSG00000214107 HGNC:6808 MAGEB10 gene MAGEB10 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000177689 ENSG00000177689 HGNC:25377 MAGEB2 gene MAGEB2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000099399 ENSG00000099399 HGNC:6809 MAGEC1 gene MAGEC1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000155495 ENSG00000155495 HGNC:6812 MAGEC3 gene MAGEC3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000165509 ENSG00000165509 HGNC:23798 MAGED1 gene MAGED1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000179222 ENSG00000179222 HGNC:6813 MAGEE2 gene MAGEE2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000186675 ENSG00000186675 HGNC:24935 MAGIX gene MAGIX Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000017621 ENSG00000269313 HGNC:30006 MAGT1 gene MAGT1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 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 95, 300716Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2B1 gene MAN2B1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mannosidosis, alpha-, types I and II, 248500 False 1 0;0;0 0.1180 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mannosidosis, beta, 248510 False 1 0;0;0 0.1180 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOB gene MAOB Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000069535 ENSG00000069535 HGNC:6834 MAP2K1 gene MAP2K1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cardiofaciocutaneous syndrome 3, 615279;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cardiofaciocutaneous syndrome 4, 615280;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K15 gene MAP3K15 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000180815 ENSG00000180815 HGNC:31689 MAP7D3 gene MAP7D3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000129680 ENSG00000129680 HGNC:25742 MAT1A gene MAT1A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850 False 1 0;0;0 0.1180 False ENSG00000151224 ENSG00000151224 HGNC:6903 MBNL3 gene MBNL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000076770 ENSG00000076770 HGNC:20564 MCCC1 gene MCCC1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 False 1 0;0;0 0.1180 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 False 1 0;0;0 0.1180 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCOLN1 gene MCOLN1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mucolipidosis IV, 252650 False 1 0;0;0 0.1180 False ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 False 1 0;0;0 0.1180 False ENSG00000147316 ENSG00000147316 HGNC:6954 MED17 gene MED17 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000042429 ENSG00000042429 HGNC:2375 MED23 gene MED23 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 18, 614249;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000112282 ENSG00000112282 HGNC:2372 MGAT2 gene MGAT2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIa, 212066 False 1 0;0;0 0.1180 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGAT5B gene MGAT5B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000167889 ENSG00000167889 HGNC:24140 MIB1 gene MIB1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101752 ENSG00000101752 HGNC:21086 MKKS gene MKKS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900 False 1 0;0;0 0.1180 False ENSG00000125863 ENSG00000125863 HGNC:7108 MLC1 gene MLC1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLH1 gene MLH1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000076242 ENSG00000076242 HGNC:7127 MLYCD gene MLYCD Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Malonyl-CoA decarboxylase deficiency, 248360;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Methylmalonic aciduria, vitamin B12-responsive, 251100;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Methylmalonic aciduria and homocystinuria, cblC type, 277400 False 1 0;0;0 0.1180 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Molybdenum cofactor deficiency, type A, 252150 False 1 0;0;0 0.1180 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Molybdenum cofactor deficiency, type B, 252150 False 1 0;0;0 0.1180 False ENSG00000164172 ENSG00000164172 HGNC:7193 MORC4 gene MORC4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000133131 ENSG00000133131 HGNC:23485 MPDU1 gene MPDU1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type If, 609180 False 1 0;0;0 0.1180 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPLKIP gene MPLKIP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Trichothiodystrophy, nonphotosensitive 1, 234050 False 1 0;0;0 0.1180 False ENSG00000168303 ENSG00000168303 HGNC:16002 MRPS22 gene MRPS22 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Combined oxidative phosphorylation deficiency 5, 611719 False 1 0;0;0 0.1180 False ENSG00000175110 ENSG00000175110 HGNC:14508 MSL3 gene MSL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000005302 ENSG00000005302 HGNC:7370 MTF1 gene MTF1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000188786 ENSG00000188786 HGNC:7428 MTM1 gene MTM1 Emory Genetics Laboratory Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-linked Myotubular Myopathy False 1 0;0;0 0.1180 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR1 gene MTMR1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000063601 ENSG00000063601 HGNC:7449 MTMR8 gene MTMR8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102043 ENSG00000102043 HGNC:16825 MTR gene MTR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.1180 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.1180 False ENSG00000124275 ENSG00000124275 HGNC:7473 MUT gene MUT Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Methylmalonic aciduria, mut(0) type, 251000 False 1 0;0;0 0.1180 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mevalonic aciduria, 610377Hyper-IgD syndrome, 260920Porokeratosis 3, disseminated superficial actinic, 175900 False 1 0;0;0 0.1180 False ENSG00000110921 ENSG00000110921 HGNC:7530 MXRA5 gene MXRA5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101825 ENSG00000101825 HGNC:7539 MYCN gene MYCN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Feingold syndrome, 164280 False 1 0;0;0 0.1180 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYO1D gene MYO1D Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000176658 ENSG00000176658 HGNC:7598 MYO1G gene MYO1G Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136286 ENSG00000136286 HGNC:13880 MYO5A gene MYO5A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Griscelli syndrome, type 1, 214450 False 1 0;0;0 0.1180 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYT1L gene MYT1L Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000186487 ENSG00000186487 HGNC:7623 NAGA gene NAGA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241 False 1 0;0;0 0.1180 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 False 1 0;0;0 0.1180 False ENSG00000108784 ENSG00000108784 HGNC:7632 NALCN gene NALCN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders ?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 False 1 0;0;0 0.1180 False ENSG00000102452 ENSG00000102452 HGNC:19082 NDE1 gene NDE1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lissencephaly 4 (with microcephaly), 614019;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDST1 gene NDST1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000070614 ENSG00000070614 HGNC:7680 NDUFA11 gene NDUFA11 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 False 1 0;0;0 0.1180 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFS1 gene NDUFS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome, 256000 False 1 0;0;0 0.1180 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome due to mitochondrial complex I deficiency, 256000 False 1 0;0;0 0.1180 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial complex I deficiency, 252010 False 1 0;0;0 0.1180 False ENSG00000167792 ENSG00000167792 HGNC:7716 NECAB2 gene NECAB2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000103154 ENSG00000103154 HGNC:23746 NECTIN1 gene NECTIN1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060 False 1 0;0;0 0.1180 False ENSG00000110400 ENSG00000110400 HGNC:9706 NEU1 gene NEU1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Sialidosis, type I, 256550Sialidosis, type II, 256550;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXMIF gene NEXMIF Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000050030 ENSG00000050030 HGNC:29433 NF1 gene NF1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIX gene NFIX Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000008441 ENSG00000008441 HGNC:7788 NIPBL gene NIPBL Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cornelia de Lange syndrome 1, 122470 False 1 0;0;0 0.1180 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKAP gene NKAP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101882 ENSG00000101882 HGNC:29873 NKX2-1 gene NKX2-1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 False 1 0;0;0 0.1180 False ENSG00000136352 ENSG00000136352 HGNC:11825 NLGN3 gene NLGN3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000146938 ENSG00000146938 HGNC:14287 NLRP3 gene NLRP3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cold-induced autoinflammatory syndrome, familial, 120100Muckle-Wells syndrome, 191900CINCA syndrome, 607115 False 1 0;0;0 0.1180 False ENSG00000162711 ENSG00000162711 HGNC:16400 NPHP1 gene NPHP1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583 False 1 0;0;0 0.1180 False ENSG00000144061 ENSG00000144061 HGNC:7905 NR1I3 gene NR1I3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000143257 ENSG00000143257 HGNC:7969 NRAS gene NRAS Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500 False 1 0;0;0 0.1180 False ENSG00000213281 ENSG00000213281 HGNC:7989 NRK gene NRK Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000123572 ENSG00000123572 HGNC:25391 NRXN2 gene NRXN2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000110076 ENSG00000110076 HGNC:8009 NSD1 gene NSD1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000165671 ENSG00000165671 HGNC:14234 NTM gene NTM Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182667 ENSG00000182667 HGNC:17941 NTRK1 gene NTRK1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Insensitivity to pain, congenital, with anhidrosis, 256800Medullary thyroid carcinoma, familial, 155240 False 1 0;0;0 0.1180 False ENSG00000198400 ENSG00000198400 HGNC:8031 NXF4 gene NXF4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000196970 ENSG00000196970 HGNC:8074 NXF5 gene NXF5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000126952 ENSG00000126952 HGNC:8075 OCLN gene OCLN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria;Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay) 20727516 False 1 0;0;0 0.1180 False ENSG00000197822 ENSG00000197822 HGNC:8104 ODF2L gene ODF2L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000122417 ENSG00000122417 HGNC:29225 OGT gene OGT Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147162 ENSG00000147162 HGNC:8127 OR5M1 gene OR5M1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000255012 ENSG00000255012 HGNC:8352 ORC1 gene ORC1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Meier-Gorlin syndrome 1, 224690 False 1 0;0;0 0.1180 False ENSG00000085840 ENSG00000085840 HGNC:8487 OXCT1 gene OXCT1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000083720 ENSG00000083720 HGNC:8527 P2RY4 gene P2RY4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000186912 ENSG00000186912 HGNC:8542 P2RY8 gene P2RY8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182162 ENSG00000182162 HGNC:15524 PABPC5 gene PABPC5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000174740 ENSG00000174740 HGNC:13629 PACS1 gene PACS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 17, 615009 False 1 0;0;0 0.1180 False ENSG00000175115 ENSG00000175115 HGNC:30032 PAFAH1B1 gene PAFAH1B1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000171759 ENSG00000171759 HGNC:8582 PANK2 gene PANK2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 False 1 0;0;0 0.1180 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARP1 gene PARP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000143799 ENSG00000143799 HGNC:270 PASD1 gene PASD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000166049 ENSG00000166049 HGNC:20686 PAX8 gene PAX8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 False 1 0;0;0 0.1180 False ENSG00000125618 ENSG00000125618 HGNC:8622 PBRM1 gene PBRM1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000163939 ENSG00000163939 HGNC:30064 PC gene PC Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pyruvate carboxylase deficiency, 266150;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCDH10 gene PCDH10 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000138650 ENSG00000138650 HGNC:13404 PCNT gene PCNT Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000160299 ENSG00000160299 HGNC:16068 PDSS1 gene PDSS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Coenzyme Q10 deficiency, primary, 2, 614651 False 1 0;0;0 0.1180 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Coenzyme Q10 deficiency, primary, 3, 614652 False 1 0;0;0 0.1180 False ENSG00000164494 ENSG00000164494 HGNC:23041 PECR gene PECR Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000115425 ENSG00000115425 HGNC:18281 PEPD gene PEPD Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Prolidase deficiency, 170100;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000124299 ENSG00000124299 HGNC:8840 PEX1 gene PEX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 False 1 0;0;0 0.1180 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871 False 1 0;0;0 0.1180 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 14B, 614920 False 1 0;0;0 0.1180 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510 False 1 0;0;0 0.1180 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885 False 1 0;0;0 0.1180 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877 False 1 0;0;0 0.1180 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 12A (Zellweger), 614886 False 1 0;0;0 0.1180 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867 False 1 0;0;0 0.1180 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873 False 1 0;0;0 0.1180 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 10A (Zellweger), 614882 False 1 0;0;0 0.1180 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370 False 1 0;0;0 0.1180 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863 False 1 0;0;0 0.1180 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Rhizomelic chondrodysplasia punctata, type 1, 215100Peroxisome biogenesis disorder 9B, 614879 False 1 0;0;0 0.1180 False ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP2 gene PGAP2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hyperphosphatasia with mental retardation syndrome 3, 614207 False 1 0;0;0 0.1180 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGRMC1 gene PGRMC1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101856 ENSG00000101856 HGNC:16090 PHACTR1 gene PHACTR1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000112137 ENSG00000112137 HGNC:20990 PHF10 gene PHF10 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130024 ENSG00000130024 HGNC:18250 PHGDH gene PHGDH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Phosphoglycerate dehydrogenase deficiency, 601815 False 1 0;0;0 0.1180 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHIP gene PHIP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000146247 ENSG00000146247 HGNC:15673 PHKA1 gene PHKA1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000067177 ENSG00000067177 HGNC:8925 PIGL gene PIGL Illumina TruGenome Clinical Sequencing Services Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome False 1 0;0;0 0.1180 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIK3C3 gene PIK3C3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000078142 ENSG00000078142 HGNC:8974 PIK3R2 gene PIK3R2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 False 1 0;0;0 0.1180 False ENSG00000105647 ENSG00000105647 HGNC:8980 PIN4 gene PIN4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102309 ENSG00000102309 HGNC:8992 PJA1 gene PJA1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000181191 ENSG00000181191 HGNC:16648 PLA2G6 gene PLA2G6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLCB1 gene PLCB1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 12, 613722 False 1 0;0;0 0.1180 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLCXD1 gene PLCXD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182378 ENSG00000182378 HGNC:23148 PLXNB3 gene PLXNB3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000198753 ENSG00000198753 HGNC:9105 PMM2 gene PMM2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type Ia, 212065 False 1 0;0;0 0.1180 False ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 10, 613402;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNP gene PNP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 False 1 0;0;0 0.1180 False ENSG00000198805 ENSG00000198805 HGNC:7892 POC1A gene POC1A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;0 0.1180 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLA1 gene POLA1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLR3A gene POLR3A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropichypogonadism, 614381;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000013503 ENSG00000013503 HGNC:30348 PPOX gene PPOX Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Porphyria variegata, 176200 False 1 0;0;0 0.1180 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP2R5D gene PPP2R5D Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000112640 ENSG00000112640 HGNC:9312 PPT1 gene PPT1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 1, 256730;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRDX4 gene PRDX4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000123131 ENSG00000123131 HGNC:17169 PRICKLE3 gene PRICKLE3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000012211 ENSG00000012211 HGNC:6645 PRMT9 gene PRMT9 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH gene PRODH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hyperprolinemia, type I, 239500{Schizophrenia, susceptibility to, 4}, 600850 False 1 0;0;0 0.1180 False ENSG00000100033 ENSG00000100033 HGNC:9453 PROX2 gene PROX2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000119608 ENSG00000119608 HGNC:26715 PRRG1 gene PRRG1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130962 ENSG00000130962 HGNC:9469 PRRG3 gene PRRG3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130032 ENSG00000130032 HGNC:30798 PRRT2 gene PRRT2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722 False 1 0;0;0 0.1180 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSMA7 gene PSMA7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101182 ENSG00000101182 HGNC:9536 PSMD10 gene PSMD10 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101843 ENSG00000101843 HGNC:9555 PTCH1 gene PTCH1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Basal cell nevus syndrome, 109400Basal cell carcinoma, somatic, 605462Holoprosencephaly-7, 610828 False 1 0;0;0 0.1180 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTCHD1 gene PTCHD1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000165186 ENSG00000165186 HGNC:26392 PTEN gene PTEN Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN21 gene PTPN21 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000070778 ENSG00000070778 HGNC:9651 PUDP gene PUDP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130021 ENSG00000130021 HGNC:16818 PUS1 gene PUS1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mitochondrial myopathy and sideroblastic anemia 1, 600462 False 1 0;0;0 0.1180 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cutis laxa, autosomal recessive, type IIB, 612940Cutis laxa, autosomal recessive, type IIIB, 614438 False 1 0;0;0 0.1180 False ENSG00000183010 ENSG00000183010 HGNC:9721 RAB18 gene RAB18 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Warburg micro syndrome 3, 614222 False 1 0;0;0 0.1180 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB27A gene RAB27A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Griscelli syndrome, type 2, 607624 False 1 0;0;0 0.1180 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAB3GAP1 gene RAB3GAP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Warburg micro syndrome 1, 600118;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Martsolf syndrome, 212720Warburg micro syndrome 2, 614225 False 1 0;0;0 0.1180 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAB40AL gene RAB40AL Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 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, syndromic, Martin-Probst type, 300519 -3;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000102128 ENSG00000102128 HGNC:25410 RABL6 gene RABL6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000196642 ENSG00000196642 HGNC:24703 RAD21 gene RAD21 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cornelia de Lange syndrome 4, 614701 False 1 0;0;0 0.1180 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAF1 gene RAF1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Immunodeficiency 9, 612782;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000108557 ENSG00000108557 HGNC:9834 RALGDS gene RALGDS Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000160271 ENSG00000160271 HGNC:9842 RAPGEF1 gene RAPGEF1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000107263 ENSG00000107263 HGNC:4568 RARS2 gene RARS2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pontocerebellar hypoplasia, type 6, 611523 False 1 0;0;0 0.1180 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBM28 gene RBM28 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 False 1 0;0;0 0.1180 False ENSG00000106344 ENSG00000106344 HGNC:21863 RELN gene RELN Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lissencephaly 2 (Norman-Roberts type), 257320 False 1 0;0;0 0.1180 False ENSG00000189056 ENSG00000189056 HGNC:9957 RENBP gene RENBP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102032 ENSG00000102032 HGNC:9959 RFT1 gene RFT1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type In, 612015 False 1 0;0;0 0.1180 False ENSG00000163933 ENSG00000163933 HGNC:30220 RGN gene RGN Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130988 ENSG00000130988 HGNC:9989 RGS7 gene RGS7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182901 ENSG00000182901 HGNC:10003 RIT1 gene RIT1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Noonan syndrome 8, 615355 False 1 0;0;0 0.1180 False ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Combined oxidative phosphorylation deficiency 11, 614922 False 1 0;0;0 0.1180 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aicardi-Goutieres syndrome 4, 610333 False 1 0;0;0 0.1180 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aicardi-Goutieres syndrome 2, 610181 False 1 0;0;0 0.1180 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aicardi-Goutieres syndrome 3, 610329 False 1 0;0;0 0.1180 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukoencephalopathy, cystic, without megalencephaly, 612951;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000026297 ENSG00000026297 HGNC:21686 ROGDI gene ROGDI Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Kohlschutter-Tonz syndrome, 226750 False 1 0;0;0 0.1180 False ENSG00000067836 ENSG00000067836 HGNC:29478 RPGR gene RPGR Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1L gene RPGRIP1L Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360 False 1 0;0;0 0.1180 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL10 gene RPL10 Emory Genetics Laboratory Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 0.1180 False ENSG00000147403 ENSG00000147403 HGNC:10298 RTL9 gene RTL9 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000243978 ENSG00000243978 HGNC:29245 SALL1 gene SALL1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Townes-Brocks syndrome, 107480Townes-Brocks branchiootorenal-like syndrome, 107480 False 1 0;0;0 0.1180 False ENSG00000103449 ENSG00000103449 HGNC:10524 SATB2 gene SATB2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cleft palate and mental retardation, 119540;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000119042 ENSG00000119042 HGNC:21637 SC5D gene SC5D Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lathosterolosis, 607330 False 1 0;0;0 0.1180 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAPER gene SCAPER Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000140386 ENSG00000140386 HGNC:13081 SCN2A gene SCN2A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cognitive impairment with or without cerebellar ataxia, 614306Epileptic encephalopathy, early infantile, 13, 614558;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCO2 gene SCO2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 False 1 0;0;0 0.1180 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165 False 1 0;0;0 0.1180 False ENSG00000073578 ENSG00000073578 HGNC:10680 SERAC1 gene SERAC1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 False 1 0;0;0 0.1180 False ENSG00000122335 ENSG00000122335 HGNC:21061 SETBP1 gene SETBP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Schinzel-Giedion midface retraction syndrome, 269150;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD5 gene SETD5 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000168137 ENSG00000168137 HGNC:25566 SETDB2 gene SETDB2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136169 ENSG00000136169 HGNC:20263 SGSH gene SGSH Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHANK1 gene SHANK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 False 1 0;0;0 0.1180 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHOC2 gene SHOC2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Noonan-like syndrome with loose anagen hair, 607721;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000185960 ENSG00000185960 HGNC:10853 SHROOM2 gene SHROOM2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000146950 ENSG00000146950 HGNC:630 SIL1 gene SIL1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Marinesco-Sjogren syndrome, 248800 False 1 0;0;0 0.1180 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIX3 gene SIX3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holoprosencephaly-2, 157170Schizensephaly, 269160 False 1 0;0;0 0.1180 False ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Shprintzen-Goldberg syndrome, 182212 False 1 0;0;0 0.1180 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC12A6 gene SLC12A6 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Agenesis of the corpus callosum with peripheral neuropathy, 218000 -3;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC17A5 gene SLC17A5 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Salla disease, 604369Sialic acid storage disorder, infantile, 269920 False 1 0;0;0 0.1180 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC25A15 gene SLC25A15 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 -3 False 1 0;0;0 0.1180 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A22 gene SLC25A22 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 3, 609304;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A53 gene SLC25A53 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000176274 ENSG00000269743 HGNC:31894 SLC25A6 gene SLC25A6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000169100 ENSG00000169100 HGNC:10992 SLC26A9 gene SLC26A9 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000174502 ENSG00000174502 HGNC:14469 SLC2A1 gene SLC2A1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders GLUT1 deficiency syndrome 1, 606777GLUT1 deficiency syndrome 2, 612126{Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847Dystonia 9, 601042;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC31A1 gene SLC31A1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC33A1 gene SLC33A1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 42, autosomal dominant, 612539Congenital cataracts, hearing loss, and neurodegeneration, 614482 False 1 0;0;0 0.1180 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35C1 gene SLC35C1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIc, 266265 False 1 0;0;0 0.1180 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC4A4 gene SLC4A4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Renal tubular acidosis, proximal, with ocular abnormalities, 604278 False 1 0;0;0 0.1180 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC6A1 gene SLC6A1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A17 gene SLC6A17 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000197106 ENSG00000197106 HGNC:31399 SLC6A8 gene SLC6A8 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cerebral creatine deficiency syndrome 1, 300352;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000130821 ENSG00000130821 HGNC:11055 SMAD4 gene SMAD4 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pancreatic cancerPolyposis, juvenile intestinal, 174900Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050Myhre syndrome, 139210 False 1 0;0;0 0.1180 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Nicolaides-Baraitser syndrome, 601358;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Rhabdoid tumors, somatic, 609322Rhabdoid predisposition syndrome 1, 609322Mental retardation, autosomal dominant 15, 614608;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC1 gene SMARCC1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000173473 ENSG00000173473 HGNC:11104 SMARCC2 gene SMARCC2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMARCD1 gene SMARCD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000066117 ENSG00000066117 HGNC:11106 SMARCD2 gene SMARCD2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000108604 ENSG00000108604 HGNC:11107 SMARCD3 gene SMARCD3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000082014 ENSG00000082014 HGNC:11108 SMARCE1 gene SMARCE1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cornelia de Lange syndrome 3, 610759 False 1 0;0;0 0.1180 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMOC1 gene SMOC1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microphthalmia with limb anomalies, 206920 False 1 0;0;0 0.1180 False ENSG00000198732 ENSG00000198732 HGNC:20318 SMPD1 gene SMPD1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616 False 1 0;0;0 0.1180 False ENSG00000166311 ENSG00000166311 HGNC:11120 SNAP29 gene SNAP29 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 False 1 0;0;0 0.1180 False ENSG00000099940 ENSG00000099940 HGNC:11133 SNTG1 gene SNTG1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147481 ENSG00000147481 HGNC:13740 SOBP gene SOBP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, anterior maxillary protrusion, and strabismus, 613671 False 1 0;0;0 0.1180 False ENSG00000112320 ENSG00000112320 HGNC:29256 SOS1 gene SOS1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Fibromatosis, gingival, 135300Noonan syndrome 4, 610733;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOX10 gene SOX10 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136 False 1 0;0;0 0.1180 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX5 gene SOX5 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000134532 ENSG00000134532 HGNC:11201 SPG11 gene SPG11 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spastic paraplegia 11, autosomal recessive, 604360;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPRED1 gene SPRED1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Legius syndrome, 611431;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000166068 ENSG00000166068 HGNC:20249 SPRY3 gene SPRY3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000168939 ENSG00000168939 HGNC:11271 SPTAN1 gene SPTAN1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 5, 613477;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTLC2 gene SPTLC2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000100596 ENSG00000100596 HGNC:11278 SRCAP gene SRCAP Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Floating-Harbor syndrome, 136140 False 1 0;0;0 0.1180 False ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A3 gene SRD5A3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type Iq, 612379Kahrizi syndrome, 612713 False 1 0;0;0 0.1180 False ENSG00000128039 ENSG00000128039 HGNC:25812 SREBF2 gene SREBF2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000198911 ENSG00000198911 HGNC:11290 SRGAP3 gene SRGAP3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000196220 ENSG00000196220 HGNC:19744 SRPX2 gene SRPX2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 -3;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000102359 ENSG00000102359 HGNC:30668 ST3GAL3 gene ST3GAL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 12, 611090Epileptic encephalopathy, early infantile, 15, 615006;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000126091 ENSG00000126091 HGNC:10866 STAB2 gene STAB2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000136011 ENSG00000136011 HGNC:18629 STAG1 gene STAG1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000118007 ENSG00000118007 HGNC:11354 STARD8 gene STARD8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000130052 ENSG00000130052 HGNC:19161 STIL gene STIL Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microcephaly 7, primary, autosomal recessive, 612703 False 1 0;0;0 0.1180 False ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186 False 1 0;0;0 0.1180 False ENSG00000137868 ENSG00000137868 HGNC:30650 STXBP1 gene STXBP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Epileptic encephalopathy, early infantile, 4, 612164 (2);Intellectual disability False 1 0;0;0 0.1180 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUOX gene SUOX Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Sulfite oxidase deficiency, 272300 False 1 0;0;0 0.1180 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leigh syndrome, due to COX deficiency, 256000 False 1 0;0;0 0.1180 False ENSG00000148290 ENSG00000148290 HGNC:11474 SVBP gene SVBP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000177868 ENSG00000177868 HGNC:29204 SYNCRIP gene SYNCRIP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000135316 ENSG00000135316 HGNC:16918 SYNE1 gene SYNE1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNGAP1 gene SYNGAP1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal dominant 5, 612621;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYT1 gene SYT1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000067715 ENSG00000067715 HGNC:11509 SYT14 gene SYT14 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spinocerebellar ataxia, autosomal recessive 11, 614229 False 1 0;0;0 0.1180 False ENSG00000143469 ENSG00000143469 HGNC:23143 SYTL4 gene SYTL4 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102362 ENSG00000102362 HGNC:15588 SYTL5 gene SYTL5 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147041 ENSG00000147041 HGNC:15589 TAF1 gene TAF1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147133 ENSG00000147133 HGNC:11535 TAF2 gene TAF2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000064313 ENSG00000064313 HGNC:11536 TAF7L gene TAF7L Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000102387 ENSG00000102387 HGNC:11548 TANC2 gene TANC2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000170921 ENSG00000170921 HGNC:30212 TAT gene TAT Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Tyrosinemia, type II, 276600;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000198650 ENSG00000198650 HGNC:11573 TBC1D24 gene TBC1D24 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D8B gene TBC1D8B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000133138 ENSG00000133138 HGNC:24715 TBCE gene TBCE Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 False 1 0;0;0 0.1180 False ENSG00000116957 ENSG00000116957 HGNC:11582 TCEAL3 gene TCEAL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000196507 ENSG00000196507 HGNC:28247 TCP10L2 gene TCP10L2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000166984 ENSG00000166984 HGNC:21254 TECR gene TECR Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 14, 614020 False 1 0;0;0 0.1180 False ENSG00000099797 ENSG00000099797 HGNC:4551 TENM1 gene TENM1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000009694 ENSG00000009694 HGNC:8117 TEPSIN gene TEPSIN Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000167302 ENSG00000167302 HGNC:26458 TGFBR1 gene TGFBR1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Loeys-Dietz syndrome, type 1A, 609192Loeys-Dietz syndrome, type 2A, 608967{Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 False 1 0;0;0 0.1180 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Colorectal cancer, hereditary nonpolyposis, type 6, 614331Esophageal cancer, somatic, 133239Loeys-Dietz syndrome, type 1B, 610168Loeys-Dietz syndrome, type 2B, 610380 False 1 0;0;0 0.1180 False ENSG00000163513 ENSG00000163513 HGNC:11773 THAP1 gene THAP1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000131931 ENSG00000131931 HGNC:20856 THOC2 gene THOC2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000125676 ENSG00000125676 HGNC:19073 THRB gene THRB Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Thyroid hormone resistance, 188570Thyroid hormone resistance, autosomal recessive, 274300Thyroid hormone resistance, selective pituitary, 145650 False 1 0;0;0 0.1180 False ENSG00000151090 ENSG00000151090 HGNC:11799 THUMPD1 gene THUMPD1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000066654 ENSG00000066654 HGNC:23807 TKTL1 gene TKTL1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000007350 ENSG00000007350 HGNC:11835 TLR8 gene TLR8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101916 ENSG00000101916 HGNC:15632 TMCO1 gene TMCO1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 False 1 0;0;0 0.1180 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM132E gene TMEM132E Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM135 gene TMEM135 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000166575 ENSG00000166575 HGNC:26167 TMEM165 gene TMEM165 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Congenital disorder of glycosylation, type IIk, 614727 False 1 0;0;0 0.1180 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM231 gene TMEM231 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 20, 614970Meckel syndrome, type 11, 615397 -3 False 1 0;0;0 0.1180 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Joubert syndrome 14, 614424 False 1 0;0;0 0.1180 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550 False 1 0;0;0 0.1180 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMLHE gene TMLHE Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000185973 ENSG00000185973 HGNC:18308 TNKS2 gene TNKS2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000107854 ENSG00000107854 HGNC:15677 TNPO2 gene TNPO2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000105576 ENSG00000105576 HGNC:19998 TPP1 gene TPP1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Ceroid lipofuscinosis, neuronal, 2, 204500 False 1 0;0;0 0.1180 False ENSG00000166340 ENSG00000166340 HGNC:2073 TREX1 gene TREX1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700 False 1 0;0;0 0.1180 False ENSG00000213689 ENSG00000213689 HGNC:12269 TREX2 gene TREX2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000183479 ENSG00000183479 HGNC:12270 TRIO gene TRIO Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000038382 ENSG00000038382 HGNC:12303 TRMT1 gene TRMT1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000104907 ENSG00000104907 HGNC:25980 TSC1 gene TSC1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690Focal cortical dysplasia, Taylor balloon cell type, 607341;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSC22D3 gene TSC22D3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000157514 ENSG00000157514 HGNC:3051 TSEN2 gene TSEN2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;25533962 False 1 0;0;0 0.1180 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTC8 gene TTC8 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464 False 1 0;0;0 0.1180 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTI2 gene TTI2 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000129696 ENSG00000129696 HGNC:26262 TUBA1A gene TUBA1A Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Lissencephaly 3, 611603;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Polymicrogyria with optic nerve hypoplasia, 613180;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBAL3 gene TUBAL3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000178462 ENSG00000178462 HGNC:23534 TUBB2B gene TUBB2B Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Polymicrogyria, symmetric or asymmetric, 610031;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUSC3 gene TUSC3 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mental retardation, autosomal recessive 7, 611093;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000104723 ENSG00000104723 HGNC:30242 UBR1 gene UBR1 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Johanson-Blizzard syndrome, 243800;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000159459 ENSG00000159459 HGNC:16808 UBR7 gene UBR7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000012963 ENSG00000012963 HGNC:20344 UBTF gene UBTF Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000108312 ENSG00000108312 HGNC:12511 UPB1 gene UPB1 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Beta-ureidopropionase deficiency, 613161 False 1 0;0;0 0.1180 False ENSG00000100024 ENSG00000100024 HGNC:16297 USP27X gene USP27X Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000242013 ENSG00000273820 HGNC:13486 USP9X gene USP9X Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000124486 ENSG00000124486 HGNC:12632 UTP14A gene UTP14A Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000156697 ENSG00000156697 HGNC:10665 VAMP7 gene VAMP7 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000124333 ENSG00000124333 HGNC:11486 VLDLR gene VLDLR Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000147852 ENSG00000147852 HGNC:12698 VRK1 gene VRK1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pontocerebellar hypoplasia type 1A, 607596;Intellectual disability False 1 0;0;0 0.1180 False ENSG00000100749 ENSG00000100749 HGNC:12718 WAC gene WAC Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000095787 ENSG00000095787 HGNC:17327 WDR11 gene WDR11 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000120008 ENSG00000120008 HGNC:13831 WDR13 gene WDR13 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101940 ENSG00000101940 HGNC:14352 WDR45 gene WDR45 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Neurodegeneration with brain iron accululation 5, 300894 False 1 0;0;0 0.1180 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR81 gene WDR81 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 False 1 0;0;0 0.1180 False ENSG00000167716 ENSG00000167716 HGNC:26600 WNK3 gene WNK3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000196632 ENSG00000196632 HGNC:14543 WWC3 gene WWC3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000047644 ENSG00000047644 HGNC:29237 XIAP gene XIAP Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000101966 ENSG00000101966 HGNC:592 XK gene XK Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;100;0 0.1180 False ENSG00000047597 ENSG00000047597 HGNC:12811 XKRX gene XKRX Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000182489 ENSG00000182489 HGNC:29845 XPA gene XPA Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Xeroderma pigmentosum, group A, 278700 False 1 0;0;0 0.1180 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPNPEP3 gene XPNPEP3 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Nephronophthisis-like nephropathy 1, 613159 False 1 0;0;0 0.1180 False ENSG00000196236 ENSG00000196236 HGNC:28052 YY1 gene YY1 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZBTB16 gene ZBTB16 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Leukemia, acute promyelocytic, PL2F/RARA typeSkeletal defects, genital hypoplasia, and mental retardation, 612447 False 1 0;0;0 0.1180 False ENSG00000109906 ENSG00000109906 HGNC:12930 ZBTB18 gene ZBTB18 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB40 gene ZBTB40 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000184677 ENSG00000184677 HGNC:29045 ZC3H14 gene ZC3H14 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000100722 ENSG00000100722 HGNC:20509 ZCCHC12 gene ZCCHC12 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000174460 ENSG00000174460 HGNC:27273 ZCCHC8 gene ZCCHC8 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000033030 ENSG00000033030 HGNC:25265 ZDHHC15 gene ZDHHC15 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability False 1 0;0;0 0.1180 False ENSG00000102383 ENSG00000102383 HGNC:20342 ZFHX4 gene ZFHX4 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178 False 1 0;0;0 0.1180 False ENSG00000091656 ENSG00000091656 HGNC:30939 ZFX gene ZFX Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000005889 ENSG00000005889 HGNC:12869 ZFYVE26 gene ZFYVE26 Known gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204;24896178;25533962 False 1 0;0;0 0.1180 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC2 gene ZIC2 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Holoprosencephaly-5, 609637 False 1 0;0;0 0.1180 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZMYM3 gene ZMYM3 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000147130 ENSG00000147130 HGNC:13054 ZMYM6 gene ZMYM6 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000163867 ENSG00000163867 HGNC:13050 ZMYND12 gene ZMYND12 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000066185 ENSG00000066185 HGNC:21192 ZNF425 gene ZNF425 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000204947 ENSG00000204947 HGNC:20690 ZNF526 gene ZNF526 Candidate gene (Grozeva et al, 2015) Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Intellectual disability PMID: 26350204 False 1 0;0;0 0.1180 False ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF592 gene ZNF592 Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Spinocerebellar ataxia, autosomal recessive 5, 606937 False 1 0;0;0 0.1180 False ENSG00000166716 ENSG00000166716 HGNC:28986