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 ABCD1 gene ABCD1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Adrenoleukodystrophy, 300100; Adrenomyeloneuropathy, adult, 300100;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000101986 ENSG00000101986 HGNC:61 ACSL4 gene ACSL4 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 63, 300387;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000068366 ENSG00000068366 HGNC:3571 AFF2 gene AFF2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN 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, FRAXE type, 309548; FRAXE Syndrome;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000155966 ENSG00000155966 HGNC:3776 AGA gene AGA Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Aspartylglucosaminuria, 208400;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000038002 ENSG00000038002 HGNC:318 AP1S2 gene AP1S2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Fried type, 300630;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000182287 ENSG00000182287 HGNC:560 ARHGEF6 gene ARHGEF6 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 46, 300436;Mental Retardation, X-linked;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000129675 ENSG00000129675 HGNC:685 ARHGEF9 gene ARHGEF9 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Epileptic encephalopathy, early infantile, 8, 300607;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARX gene ARX Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN 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) Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP7A gene ATP7A Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000165240 ENSG00000165240 HGNC:869 ATRX gene ATRX Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Alpha-thalassemia/mental retardation syndrome, 301040Alpha-thalassemia myelodysplasia syndrome, somatic, 300448Mental retardation-hypotonic facies syndrome, X-linked, 309580;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000085224 ENSG00000085224 HGNC:886 BCOR gene BCOR Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Microphthalmia, syndromic 2, 300166;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000183337 ENSG00000183337 HGNC:20893 BRWD3 gene BRWD3 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 93, 300659;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000165288 ENSG00000165288 HGNC:17342 CASK gene CASK Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147044 ENSG00000147044 HGNC:1497 CDKL5 gene CDKL5 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000008086 ENSG00000008086 HGNC:11411 CLIC2 gene CLIC2 Candidate gene (Grozeva et al, 2015);Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen 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 32, 300886;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000155962 ENSG00000155962 HGNC:2063 CNTNAP2 gene CNTNAP2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000174469 ENSG00000174469 HGNC:13830 CUL4B gene CUL4B Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN 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 15 (Cabezas type), 300354;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000158290 ENSG00000158290 HGNC:2555 DCX gene DCX Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000077279 ENSG00000077279 HGNC:2714 DKC1 gene DKC1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Dyskeratosis congenita, X-linked, 305000;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG3 gene DLG3 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 90, 300850;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000082458 ENSG00000082458 HGNC:2902 DMD gene DMD Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000198947 ENSG00000198947 HGNC:2928 DYNC1H1 gene DYNC1H1 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Dominant;Charcot-Marie-Tooth disease, axonal, type 20, 614228Mental retardation, autosomal dominant 13, 614563Spinal muscular atrophy, lower extremity-predominant, AD, 158600;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000197102 ENSG00000197102 HGNC:2961 EHMT1 gene EHMT1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Kleefstra syndrome, 610253;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000181090 ENSG00000181090 HGNC:24650 FGD1 gene FGD1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102302 ENSG00000102302 HGNC:3663 FLNA gene FLNA Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Frontometaphyseal dysplasia, 305620Heterotopia, periventricular, ED variant, 300537FG syndrome 2, 300321Cardiac valvular dysplasia, X-linked, 314400Terminal osseous dysplasia, 300244Congenital short bowel syndrome, 300048;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000196924 ENSG00000196924 HGNC:3754 FMR1 gene FMR1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN 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) Fragile X syndrome, 300624Fragile X tremor/ataxia syndrome, 300623Premature ovarian failure 1, 311360;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102081 ENSG00000102081 HGNC:3775 FOXP1 gene FOXP1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation with language impairment and autistic features, 613670;Mental Retardation with Language Impairment and Autistic Features;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000114861 ENSG00000114861 HGNC:3823 FTSJ1 gene FTSJ1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 9, 309549;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000068438 ENSG00000068438 HGNC:13254 GDI1 gene GDI1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 41, 300849;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000203879 ENSG00000203879 HGNC:4226 GK gene GK Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Glycerol kinase deficiency, 307030;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000198814 ENSG00000198814 HGNC:4289 GPC3 gene GPC3 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRIA3 gene GRIA3 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 94, 300699;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRIN2B gene GRIN2B Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Dominant;Mental retardation, autosomal dominant 6, 613970;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000273079 ENSG00000273079 HGNC:4586 HCCS gene HCCS Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Microphthalmia, syndromic 7, 309801;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 3, 309541;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000172534 ENSG00000172534 HGNC:4839 HPRT1 gene HPRT1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Lesch-Nyhan syndrome, 300322HPRT-related gout, 300323;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSD17B10 gene HSD17B10 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438Mental retardation, X-linked syndromic 10, 300220Mental retardation, X-linked 17/31, microduplication, 300705;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000072506 ENSG00000072506 HGNC:4800 HUWE1 gene HUWE1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Turner type, 300706;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000086758 ENSG00000086758 HGNC:30892 IDS gene IDS Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Mucopolysaccharidosis II, 309900;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000010404 ENSG00000010404 HGNC:5389 IL1RAPL1 gene IL1RAPL1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 21/34, 300143;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000169306 ENSG00000169306 HGNC:5996 IQSEC2 gene IQSEC2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 1, 309530;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000124313 ENSG00000124313 HGNC:29059 KANSL1 gene KANSL1 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, 610443;Intellectual Disability Syndrome;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000120071 ENSG00000120071 HGNC:24565 KCNJ10 gene KCNJ10 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome;SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791 False 3 0;0;0 0.1180 False ENSG00000177807 ENSG00000177807 HGNC:6256 KDM5C gene KDM5C Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Claes-Jensen type, 300534 -3;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIF1A gene KIF1A Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Dominant;Spastic paraplegia 30, autosomal recessive, 610357Neuropathy, hereditary sensory, type IIC, 614213Mental retardation, autosomal dominant 9, 614255;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000130294 ENSG00000130294 HGNC:888 L1CAM gene L1CAM Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Hydrocephalus due to aqueductal stenosis, 307000MASA syndrome, 303350CRASH syndrome, 303350Hydrocephalus with Hirschsprung disease, 307000Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000Corpus callosum, partial agenesis of, 304100;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMP2 gene LAMP2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Danon disease, 300257;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000005893 ENSG00000005893 HGNC:6501 MAN1B1 gene MAN1B1 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental Retardation, Recessive;Mental retardation, autosomal recessive 15, 614202;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAOA gene MAOA Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Brunner syndrome, 300615;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000189221 ENSG00000189221 HGNC:6833 MBD5 gene MBD5 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Dominant;Autosomal Dominant Mental Retardation syndrome type 1;Mental retardation, autosomal dominant 1, 156200;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000204406 ENSG00000204406 HGNC:20444 MECP2 gene MECP2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Opitz-Kaveggia syndrome, 305450Lujan-Fryns syndrome, 309520Ohdo syndrome, X-linked, 300895;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000184634 ENSG00000184634 HGNC:11957 MEF2C gene MEF2C Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Stereotypic Movements, Epilepsy, and/orCerebral Malformations;Le Meur et al. (2010) describe six unrelated children with a deletion or mutation of the MEF2C gene (5q14). All six patients had a similar phenotype including severe intellectual disability, developmental delay, hypotonia, absent speech, and the inability to walk unaided. Variable features include stereotypic movements, epilepsy and/or cerebral malformations, and dysmorphic features. Mutation of the MEF2C gene causes autosomal dominant mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations.;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443Chromosome 5q14.3 deletion syndrome, 613443;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000081189 ENSG00000081189 HGNC:6996 MID1 gene MID1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Opitz GBBB syndrome, type I, 300000;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000101871 ENSG00000101871 HGNC:7095 NAA10 gene NAA10 Candidate gene (Grozeva et al, 2015);Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen 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) N-terminal acetyltransferase deficiency, 300855;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102030 ENSG00000102030 HGNC:18704 NDP gene NDP Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA1 gene NDUFA1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Mitochondrial complex I deficiency, 252010;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000125356 ENSG00000125356 HGNC:7683 NHS gene NHS Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000188158 ENSG00000188158 HGNC:7820 NRXN1 gene NRXN1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSDHL gene NSDHL Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) CHILD syndrome, 308050CK syndrome, 300831;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSUN2 gene NSUN2 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental Retardation, Recessive;Mental retardation, autosomal recessive 5, 611091;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000037474 ENSG00000037474 HGNC:25994 OCRL gene OCRL Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Lowe syndrome, 309000Dent disease 2, 300555;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPHN1 gene OPHN1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, with cerebellar hypoplasia and distinctive facial appearance, 300486;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTC gene OTC Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) CGD Ornithine transcarbamylase deficiency, 311250;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000036473 ENSG00000036473 HGNC:8512 PAK3 gene PAK3 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 30/47, 300558;Mental Retardation, X-linked;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000077264 ENSG00000077264 HGNC:8592 PAX6 gene PAX6 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, Cerebellar Ataxia, And Mental Retardation;Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH19 gene PCDH19 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Epileptic encephalopathy, early infantile, 9, 300088;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000165194 ENSG00000165194 HGNC:14270 PDHA1 gene PDHA1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000131828 ENSG00000131828 HGNC:8806 PGK1 gene PGK1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Phosphoglycerate kinase 1 deficiency, 300653;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102144 ENSG00000102144 HGNC:8896 PHF6 gene PHF6 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, 301900;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 syndrome, X-linked, Siderius type, 300263;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000172943 ENSG00000172943 HGNC:20672 PLP1 gene PLP1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000123560 ENSG00000123560 HGNC:9086 PORCN gene PORCN Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Focal dermal hypoplasia, 305600;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102312 ENSG00000102312 HGNC:17652 PQBP1 gene PQBP1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Renpenning syndrome, 309500;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102103 ENSG00000102103 HGNC:9330 PRPS1 gene PRPS1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Gout, PRPS-related, 300661Phosphoribosylpyrophosphate synthetase superactivity, 300661Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070Arts syndrome, 301835Deafness, X-linked 1, 304500;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRSS12 gene PRSS12 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 1, 249500;Mental Retardation, Recessive;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000164099 ENSG00000164099 HGNC:9477 RAB39B gene RAB39B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 72, 300271;Mental Retardation, X-linked;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000155961 ENSG00000155961 HGNC:16499 RBM10 gene RBM10 Candidate gene (Grozeva et al, 2015);Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen 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) TARP syndrome, 311900;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000182872 ENSG00000182872 HGNC:9896 RPS6KA3 gene RPS6KA3 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000177189 ENSG00000177189 HGNC:10432 SHROOM4 gene SHROOM4 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Stocco dos Santos X-linked mental retardation syndrome, 300434;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000158352 ENSG00000158352 HGNC:29215 SLC16A2 gene SLC16A2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Allan-Herndon-Dudley syndrome, 300523;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC9A6 gene SLC9A6 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen;UKGTN 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, Christianson type, 300243;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMS gene SMS Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Snyder-Robinson type, 309583;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102172 ENSG00000102172 HGNC:11123 SOX3 gene SOX3 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, with isolated growth hormone deficiency, 300123Panhypopituitarism, X-linked, 312000;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000134595 ENSG00000134595 HGNC:11199 SYN1 gene SYN1 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYP gene SYP Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 96, 300802;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000102003 ENSG00000102003 HGNC:11506 TCF4 gene TCF4 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Pitt-Hopkins syndrome, 610954;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000196628 ENSG00000196628 HGNC:11634 TIMM8A gene TIMM8A Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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) Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000126953 ENSG00000126953 HGNC:11817 TRAPPC9 gene TRAPPC9 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 13, 613192;Mental Retardation, Recessive;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000167632 ENSG00000167632 HGNC:30832 TSPAN7 gene TSPAN7 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 58, 300210;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000156298 ENSG00000156298 HGNC:11854 UBE2A gene UBE2A Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Nascimento-type, 300860;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Angelman syndrome, 105830;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000114062 ENSG00000114062 HGNC:12496 UPF3B gene UPF3B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked, syndromic 14, 300676;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000125351 ENSG00000125351 HGNC:20439 VPS13B gene VPS13B Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Cohen syndrome, 216550;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000132549 ENSG00000132549 HGNC:2183 WDR62 gene WDR62 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, Cortical Malformations, and Mental Retardation;Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000075702 ENSG00000075702 HGNC:24502 ZDHHC9 gene ZDHHC9 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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, Raymond type, 300799;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Emory Genetics Laboratory;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen Intellectual_disability Neurodevelopmental disorders Neurology and neurodevelopmental disorders Mowat-Wilson syndrome, 235730;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZNF41 gene ZNF41 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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 89, 300848;Mental Retardation, X-linked;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147124 ENSG00000147124 HGNC:13107 ZNF674 gene ZNF674 Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 92, 300851;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000251192 ENSG00000251192 HGNC:17625 ZNF711 gene ZNF711 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Known gene (Grozeva et al, 2015) ;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 97, 300803;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000147180 ENSG00000147180 HGNC:13128 ZNF81 gene ZNF81 Candidate gene (Grozeva et al, 2015);Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen 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;Mental retardation, X-linked 45, 300498;Intellectual disability False 3 0;0;0 0.1180 False ENSG00000197779 ENSG00000197779 HGNC:13156