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 ABCC6 gene ABCC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000091262 ENSG00000091262 HGNC:57 ABCG5 gene ABCG5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2, MIM#618666 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000138075 ENSG00000138075 HGNC:13886 ACOX2 gene ACOX2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6 - 617308 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27647924;27884763;29287774 False 1 0;0;100 1.63 True ENSG00000168306 ENSG00000168306 HGNC:120 ACTA1 gene ACTA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800;Nemaline myopathy 3, MIM#161800;Myopathy, actin, congenital, with cores, MIM#161800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21514153 False 1 0;0;100 1.63 True ENSG00000143632 ENSG00000143632 HGNC:129 ADA2 gene ADA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTSL2 gene ADAMTSL2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, MIM#231050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197859 ENSG00000197859 HGNC:14631 ADGRB3 gene ADGRB3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30659260;18628273 False 1 0;0;100 1.63 True ENSG00000135298 ENSG00000135298 HGNC:945 ADGRG6 gene ADGRG6 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9;OMIM #616503 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30549416 False 1 0;0;100 1.63 True ENSG00000112414 ENSG00000112414 HGNC:13841 ADRA2B gene ADRA2B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cortical myoclonus and epilepsy;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24114805;21937992 False 1 0;0;100 1.63 True ENSG00000222040 ENSG00000274286 HGNC:282 AFG3L2 gene AFG3L2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM#614487 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141385 ENSG00000141385 HGNC:315 AGGF1 gene AGGF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164252 ENSG00000164252 HGNC:24684 AGK gene AGK Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, MIM#212350 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, MIM# 232400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162688 ENSG00000162688 HGNC:321 AGO3 gene AGO3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25271087 False 1 0;0;100 1.63 True ENSG00000126070 ENSG00000126070 HGNC:18421 AGPS gene AGPS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000018510 ENSG00000018510 HGNC:327 AGT gene AGT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM#267430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135744 ENSG00000135744 HGNC:333 AGTR2 gene AGTR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked complex neurodevelopmental disorder MONDO:0100148 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180772 ENSG00000180772 HGNC:338 AHSG gene AHSG Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Alopecia-intellectual disability syndrome 1 MIM#203650;infantile cortical hyperostosis Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28054173;9395485;31288248;17389622 False 1 0;0;100 1.63 True ENSG00000145192 ENSG00000145192 HGNC:349 AKR1C2 gene AKR1C2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 46XY sex reversal 8, MIM#614279 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000151632 ENSG00000151632 HGNC:385 ALDOB gene ALDOB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM#229600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG2 gene ALG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALS2 gene ALS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paralysis, infantile onset ascending, MIM#607225 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000003393 ENSG00000003393 HGNC:443 ANKH gene ANKH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia, MIM#123000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD31 gene ANKRD31 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27541642 False 1 0;0;100 1.63 True ENSG00000145700 ENSG00000145700 HGNC:26853 APTX gene APTX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169083 ENSG00000169083 HGNC:644 ARHGEF6 gene ARHGEF6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 46 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11017088 False 1 0;0;100 1.63 True ENSG00000129675 ENSG00000129675 HGNC:685 ASMT gene ASMT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21251267 False 1 0;0;100 1.63 True ENSG00000196433 ENSG00000196433 HGNC:750 ATL1 gene ATL1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory, type ID, MIM# 613708;Spastic paraplegia 3A, autosomal dominant, MIM# 182600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21336785;28736820;29180453;29691679;31236401 False 1 0;0;100 1.63 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATP10A gene ATP10A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31696658 False 1 0;0;100 1.63 True ENSG00000206190 ENSG00000206190 HGNC:13542 ATP2A2 gene ATP2A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Darier disease, MIM#124200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174437 ENSG00000174437 HGNC:812 ATP2B3 gene ATP2B3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Spinocerebellar ataxia, X-linked 1, MIM#302500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22912398;27653636 False 1 0;0;100 1.63 True ENSG00000067842 ENSG00000067842 HGNC:816 ATP2C2 gene ATP2C2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted language impairment, HP:0002463 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33864365;28440294 False 1 0;0;100 1.63 True ENSG00000064270 ENSG00000064270 HGNC:29103 ATP6V1C1 gene ATP6V1C1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39210597 False 1 0;0;100 1.63 True ENSG00000155097 ENSG00000155097 HGNC:856 ATXN10 gene ATXN10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, MIM#603516 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130638 ENSG00000130638 HGNC:10549 AVP gene AVP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes insipidus, neurohypophyseal, MIM#125700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101200 ENSG00000101200 HGNC:894 AVPR1A gene AVPR1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166148 ENSG00000166148 HGNC:895 AVPR2 gene AVPR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic, MIM#304800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126895 ENSG00000126895 HGNC:897 B3GAT3 gene B3GAT3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000149541 ENSG00000149541 HGNC:923 BANF1 gene BANF1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, BANF1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35982159 False 1 0;0;100 1.63 True ENSG00000175334 ENSG00000175334 HGNC:17397 BDNF gene BDNF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM#209880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000176697 ENSG00000176697 HGNC:1033 BICD2 gene BICD2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 50;0;50 1.63 True ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, MIM# 255200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMPER gene BMPER Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, MIM#608022 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164619 ENSG00000164619 HGNC:24154 C18orf32 gene C18orf32 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), C18orf32-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID:35107634 False 1 0;0;100 1.63 True ENSG00000177576 ENSG00000177576 HGNC:31690 C19orf12 gene C19orf12 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, MIM#614298 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131943 ENSG00000131943 HGNC:25443 C20orf24 gene C20orf24 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35614220;24194475 False 1 0;0;100 1.63 True ENSG00000101084 ENSG00000101084 HGNC:15870 C3orf58 gene C3orf58 Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000181744 ENSG00000181744 HGNC:28490 CA5A gene CA5A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26913920 False 1 0;0;100 1.63 True ENSG00000174990 ENSG00000174990 HGNC:1377 CACNG2 gene CACNG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 10, MIM#614256 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21376300 False 1 0;0;100 1.63 True ENSG00000166862 ENSG00000166862 HGNC:1406 CANT1 gene CANT1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171302 ENSG00000171302 HGNC:19721 CCDC8 gene CCDC8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, MIM#614205 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21737058 False 1 0;0;100 1.63 True ENSG00000169515 ENSG00000169515 HGNC:25367 CDC6 gene CDC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5 (MIM#613805) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21358632 False 1 0;0;100 1.63 True ENSG00000094804 ENSG00000094804 HGNC:1744 CDH15 gene CDH15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 3 MIM#612580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19012874;12052883;28422132;26506440 False 1 0;0;100 1.63 True ENSG00000129910 ENSG00000129910 HGNC:1754 CDK5R1 gene CDK5R1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30733659 False 1 0;0;100 1.63 True ENSG00000176749 ENSG00000176749 HGNC:1775 CDT1 gene CDT1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM#613804 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000167513 ENSG00000167513 HGNC:24576 CFH gene CFH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR3 gene CFHR3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116785 ENSG00000116785 HGNC:16980 CHRNA4 gene CHRNA4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14623738 False 1 0;0;100 1.63 True ENSG00000101204 ENSG00000101204 HGNC:1958 CISD2 gene CISD2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, MIM#604928 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLASP1 gene CLASP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39040917 False 1 0;0;100 1.63 True ENSG00000074054 ENSG00000074054 HGNC:17088 CLCNKA gene CLCNKA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Bartter syndrome, type 4b, digenic, MIM#613090 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18310267;29254190 False 1 0;0;100 1.63 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLIC2 gene CLIC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, syndromic 32, 300886 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22814392;25927380 False 1 0;0;100 1.63 True ENSG00000155962 ENSG00000155962 HGNC:2063 CLIP2 gene CLIP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22608712 False 1 0;0;100 1.63 True ENSG00000106665 ENSG00000106665 HGNC:2586 CLPP gene CLPP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23541340 False 1 0;0;100 1.63 True ENSG00000125656 ENSG00000125656 HGNC:2084 CMAS gene CMAS Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CMAS-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31495922 False 1 0;0;100 1.63 True ENSG00000111726 ENSG00000111726 HGNC:18290 CNTN3 gene CNTN3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNTN3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28600779 False 1 0;0;100 1.63 True ENSG00000113805 ENSG00000113805 HGNC:2173 CNTN4 gene CNTN4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;SCA Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15106122;18349135;17932120 False 1 0;0;100 1.63 True ENSG00000144619 ENSG00000144619 HGNC:2174 CNTN6 gene CNTN6 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CNTN6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30836150;28641109;29983269 False 1 0;0;100 1.63 True ENSG00000134115 ENSG00000134115 HGNC:2176 CNTNAP5 gene CNTNAP5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20346443 False 1 0;0;100 1.63 True ENSG00000155052 ENSG00000155052 HGNC:18748 COA3 gene COA3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25604084 False 1 0;0;100 1.63 True ENSG00000183978 ENSG00000183978 HGNC:24990 COL18A1 gene COL18A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, MIM#267750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A2 gene COL1A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821;Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320;Osteogenesis imperfecta, type II, MIM# 166210;Osteogenesis imperfecta, type III, MIM# 259420;Osteogenesis imperfecta, type IV, MIM# 166220 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164692 ENSG00000164692 HGNC:2198 COLEC10 gene COLEC10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3, MIM# 248340 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28301481 False 1 0;0;100 1.63 True ENSG00000184374 ENSG00000184374 HGNC:2220 COQ5 gene COQ5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29044765 False 1 0;0;100 1.63 True ENSG00000110871 ENSG00000110871 HGNC:28722 CORO1A gene CORO1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8, MIM#615401 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000102879 ENSG00000102879 HGNC:2252 COX4I2 gene COX4I2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19268275;22730437 False 1 0;0;100 1.63 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX6B1 gene COX6B1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18499082;24781756 False 1 0;0;100 1.63 True ENSG00000126267 ENSG00000126267 HGNC:2280 CP gene CP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000047457 ENSG00000047457 HGNC:2295 CPA6 gene CPA6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, MIM#614417;Febrile seizures, familial, 11, MIM#614418 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25875328;21922598;23105115 False 1 0;0;100 1.63 True ENSG00000165078 ENSG00000165078 HGNC:17245 CRKL gene CRKL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28121514;25565927 False 1 0;0;100 1.63 True ENSG00000099942 ENSG00000099942 HGNC:2363 CRLF1 gene CRLF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, MIM#272430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, MIM#610682 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSTB gene CSTB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9012407;9054946 False 1 0;0;100 1.63 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTSF gene CTSF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174080 ENSG00000174080 HGNC:2531 CUBN gene CUBN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, MIM#261100;Proteinuria Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107611 ENSG00000107611 HGNC:2548 CYC1 gene CYC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23910460;34252606 False 1 0;0;100 1.63 True ENSG00000179091 ENSG00000179091 HGNC:2579 CYFIP1 gene CYFIP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000068793 ENSG00000273749 HGNC:13759 CYP27A1 gene CYP27A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM# 213700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, MIM#615030 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000155016 ENSG00000155016 HGNC:20582 DDR2 gene DDR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Warburg-Cinotti syndrome, MIM#618175, AD;Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162733 ENSG00000162733 HGNC:2731 DLGAP2 gene DLGAP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198010 ENSG00000198010 HGNC:2906 DLK1 gene DLK1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) central precocious puberty Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28324015;30462238 False 1 50;0;50 1.63 True ENSG00000185559 ENSG00000185559 HGNC:2907 DNAH14 gene DNAH14 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35438214 False 1 50;0;50 1.63 True ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJA1 gene DNAJA1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30972502 False 1 0;0;100 1.63 True ENSG00000086061 ENSG00000086061 HGNC:5229 DNAJC3 gene DNAJC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25466870;28940199 False 1 0;0;100 1.63 True ENSG00000102580 ENSG00000102580 HGNC:9439 DNAJC6 gene DNAJC6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19a, juvenile-onset, MIM#615528 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116675 ENSG00000116675 HGNC:15469 DOCK8 gene DOCK8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual developmental disorder, autosomal dominant 2, MIM#614113 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18060736;29930340;29191242;33455084;32978894;25435912 False 1 0;0;100 1.63 True ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, MIM#254300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000175920 ENSG00000175920 HGNC:26594 DPM3 gene DPM3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19576565;28803818;30931530;31469168 False 1 0;0;100 1.63 True ENSG00000179085 ENSG00000179085 HGNC:3007 DPP10 gene DPP10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28670437 False 1 0;0;100 1.63 True ENSG00000175497 ENSG00000175497 HGNC:20823 DPP6 gene DPP6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 33 (MIM#616311) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23832105 False 1 0;67;33 1.63 True ENSG00000130226 ENSG00000130226 HGNC:3010 DSCR3 gene DSCR3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), DSCR3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31845315 False 1 0;0;100 1.63 True ENSG00000157538 ENSG00000157538 HGNC:3044 DSE gene DSE Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111817 ENSG00000111817 HGNC:21144 DUOXA2 gene DUOXA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, MIM#274900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140274 ENSG00000140274 HGNC:32698 DYNC2H1 gene DYNC2H1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187240 ENSG00000187240 HGNC:2962 EDC3 gene EDC3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 50, MIM# 616460" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29685133;25701870 False 1 0;0;100 1.63 True ENSG00000179151 ENSG00000179151 HGNC:26114 EDNRB gene EDNRB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM#277580 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136160 ENSG00000136160 HGNC:3180 EFNB1 gene EFNB1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Other Craniofrontonasal dysplasia, MIM# 304110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000090776 ENSG00000090776 HGNC:3226 EFNB2 gene EFNB2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability and congenital abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29508392 False 1 0;0;100 1.63 True ENSG00000125266 ENSG00000125266 HGNC:3227 EIF2AK1 gene EIF2AK1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32197074 False 1 0;0;100 1.63 True ENSG00000086232 ENSG00000086232 HGNC:24921 EIF2B1 gene EIF2B1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145191 ENSG00000145191 HGNC:3261 ELMOD1 gene ELMOD1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092,ELMOD1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31327155 False 1 0;0;100 1.63 True ENSG00000110675 ENSG00000110675 HGNC:25334 ELP1 gene ELP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ELP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36864284 False 1 0;0;100 1.63 True ENSG00000070061 ENSG00000070061 HGNC:5959 EOGT gene EOGT Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, MIM#615297 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31368252 False 1 0;0;100 1.63 True ENSG00000163378 ENSG00000163378 HGNC:28526 EOMES gene EOMES Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17353897 False 1 0;0;100 1.63 True ENSG00000163508 ENSG00000163508 HGNC:3372 EPB41L1 gene EPB41L1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 11, MIM# 614257 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21376300;26539891;25961944 False 1 0;0;100 1.63 True ENSG00000088367 ENSG00000088367 HGNC:3378 EPM2A gene EPM2A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000112425 ENSG00000112425 HGNC:3413 ERCC4 gene ERCC4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F, MIM#278760;XFE progeroid syndrome, MIM# 610965 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERMARD gene ERMARD Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6, MIM#615544 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24056535;27087860 False 1 0;0;100 1.63 True ENSG00000130023 ENSG00000130023 HGNC:21056 ETS1 gene ETS1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ETS1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31160359 False 1 0;0;100 1.63 True ENSG00000134954 ENSG00000134954 HGNC:3488 EVC gene EVC Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173040 ENSG00000173040 HGNC:19747 FA2H gene FA2H Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM#612319 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAAH2 gene FAAH2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neuropsychiatric disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25885783 False 1 0;0;100 1.63 True ENSG00000165591 ENSG00000165591 HGNC:26440 FAM111A gene FAM111A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kenny-Caffey syndrome, type 2, MIM# 127000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAM160B1 gene FAM160B1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31353455;27431290 False 1 0;0;100 1.63 True ENSG00000151553 ENSG00000151553 HGNC:29320 FBLN5 gene FBLN5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IA, MIM#219100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM#154700;Geleophysic dysplasia 2, MIM#614185;Weill-Marchesani syndrome 2, dominant, MIM#608328 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166147 ENSG00000166147 HGNC:3603 FGF3 gene FGF3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000186895 ENSG00000186895 HGNC:3681 FLNB gene FLNB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Larsen syndrome, MIM#150250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136068 ENSG00000136068 HGNC:3755 FTL gene FTL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 3, MIM#606159;Hyperferritinemia-cataract syndrome, MIM#600886;L-ferritin deficiency, dominant and recessive, MIM#615604 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000087086 ENSG00000087086 HGNC:3999 FZD3 gene FZD3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104290 ENSG00000104290 HGNC:4041 G6PC3 gene G6PC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20717171 False 1 0;0;100 1.63 True ENSG00000141349 ENSG00000141349 HGNC:24861 GABRG1 gene GABRG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MONDO:0100062 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36121006 False 1 0;0;100 1.63 True ENSG00000163285 ENSG00000163285 HGNC:4086 GAN gene GAN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM# 256850 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000261609 ENSG00000261609 HGNC:4137 GATA1 gene GATA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000102145 ENSG00000102145 HGNC:4170 GBA2 gene GBA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM#614409 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM#232500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCK gene GCK Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Diabetes mellitus, permanent neonatal 606176" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000106633 ENSG00000106633 HGNC:4195 GHR gene GHR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial, MIM#604271;Laron dwarfism, MIM#262500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrioventricular septal defect 3, MIM#600309;Craniometaphyseal dysplasia, autosomal recessive, MIM#218400;Erythrokeratodermia variabilis et progressiva 3, MIM#617525;Hypoplastic left heart syndrome 1, MIM#241550;Oculodentodigital dysplasia, MIM#164200;Oculodentodigital dysplasia, autosomal recessive, MIM#257850;Palmoplantar keratoderma with congenital alopecia, MIM#104100;Syndactyly, type III, MIM# 186100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169562 ENSG00000169562 HGNC:4283 GLRA1 gene GLRA1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLUD1 gene GLUD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM#606762 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000148672 ENSG00000148672 HGNC:4335 GNA14 gene GNA14 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000156049 ENSG00000156049 HGNC:4382 GOSR2 gene GOSR2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, MIM#614018 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108433 ENSG00000108433 HGNC:4431 GPSM2 gene GPSM2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM#604213 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20602914;22578326;28387217;27180139;27064331 False 1 0;0;100 1.63 True ENSG00000121957 ENSG00000121957 HGNC:29501 GRPR gene GRPR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126010 ENSG00000126010 HGNC:4609 GSPT2 gene GSPT2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28414775 False 1 0;0;100 1.63 True ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2I gene GTF2I Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000077809 ENSG00000263001 HGNC:4659 GTF2IRD1 gene GTF2IRD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31418010 False 1 0;0;100 1.63 True ENSG00000006704 ENSG00000006704 HGNC:4661 GYS2 gene GYS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver, MIM#240600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111713 ENSG00000111713 HGNC:4707 H19 gene H19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Beckwith-Wiedemann syndrome, MIM#130650;Silver-Russell syndrome, MIM#180860 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130600 ENSG00000130600 HGNC:4713 HADH gene HADH Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000138796 ENSG00000138796 HGNC:4799 HAL gene HAL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal [Histidinemia], MIM#235800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 4421298;7119955 False 1 0;0;100 1.63 True ENSG00000084110 ENSG00000084110 HGNC:4806 HARS2 gene HARS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21464306;27650058;31827252;31486067 False 1 0;0;100 1.63 True ENSG00000112855 ENSG00000112855 HGNC:4817 HOXD10 gene HOXD10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vertical talus, congenital, MIM#192950 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000128710 ENSG00000128710 HGNC:5133 IFT140 gene IFT140 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187535 ENSG00000187535 HGNC:29077 IGBP1 gene IGBP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14556245 False 1 0;0;100 1.63 True ENSG00000089289 ENSG00000089289 HGNC:5461 IGF2 gene IGF2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Growth restriction, severe, with distinctive facies, MIM#616489 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31544945;26154720 False 1 0;0;100 1.63 True ENSG00000167244 ENSG00000167244 HGNC:5466 IMMP2L gene IMMP2L Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29788020;29152845 False 1 0;0;100 1.63 True ENSG00000184903 ENSG00000184903 HGNC:14598 INS gene INS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, permanent neonatal, MIM#606176 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leprechaunism, MIM# 246200;Rabson-Mendenhall syndrome, MIM# 262190 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171105 ENSG00000171105 HGNC:6091 INTS8 gene INTS8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28542170 False 1 0;0;100 1.63 True ENSG00000164941 ENSG00000164941 HGNC:26048 IYD gene IYD Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4, MIM#274800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000009765 ENSG00000009765 HGNC:21071 JAG1 gene JAG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, MIM#118450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101384 ENSG00000101384 HGNC:6188 KANK1 gene KANK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16301218;30684669 False 1 0;0;100 1.63 True ENSG00000107104 ENSG00000107104 HGNC:19309 KATNAL2 gene KATNAL2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22495311;21572417;22495309;22495306 False 1 0;0;100 1.63 True ENSG00000167216 ENSG00000167216 HGNC:25387 KCNC3 gene KCNC3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM#605259 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCNJ11 gene KCNJ11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Diabetes mellitus, type 2, susceptibility to} 125853;Diabetes mellitus, transient neonatal, 3 610582;Diabetes, permanent neonatal, with or without neurologic features 606176;Hyperinsulinemic hypoglycemia, familial, 2 601820;Maturity-onset diabetes of the young, type 13 616329 AD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCTD13 gene KCTD13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22596160;29088697 False 1 0;0;100 1.63 True ENSG00000174943 ENSG00000174943 HGNC:22234 KIF16B gene KIF16B Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29736960 False 1 0;0;100 1.63 True ENSG00000089177 ENSG00000089177 HGNC:15869 KIF1B gene KIF1B Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;coloboma;hypoplasia of the corpus callosum;severe neurodevelopmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000054523 ENSG00000054523 HGNC:16636 KIF21A gene KIF21A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 1, MIM#135700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139116 ENSG00000139116 HGNC:19349 KIRREL3 gene KIRREL3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19012874 False 1 0;0;100 1.63 True ENSG00000149571 ENSG00000149571 HGNC:23204 KLF8 gene KLF8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11836360 False 1 0;0;100 1.63 True ENSG00000102349 ENSG00000102349 HGNC:6351 KLLN gene KLLN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21177507 False 1 0;0;100 1.63 True ENSG00000227268 ENSG00000227268 HGNC:37212 KYNU gene KYNU Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Hydroxykynureninuria, MIM#236800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28792876;17334708 False 1 0;0;100 1.63 True ENSG00000115919 ENSG00000115919 HGNC:6469 LBR gene LBR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Greenberg skeletal dysplasia, MIM#215140;3 Pelger-Huet anomaly, MIM#169400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143815 ENSG00000143815 HGNC:6518 LGI4 gene LGI4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000153902 ENSG00000153902 HGNC:18712 LHX3 gene LHX3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM#221750) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28302169 False 1 0;0;100 1.63 True ENSG00000107187 ENSG00000107187 HGNC:6595 LMNA gene LMNA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRP5 gene LRP5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exudative vitreoretinopathy 4, MIM# 601813;Hyperostosis, endosteal, MIM# 144750;Osteopetrosis, autosomal dominant 1, MIM# 607634;Osteoporosis-pseudoglioma syndrome, MIM# 259770;Osteosclerosis, MIM# 144750;Polycystic liver disease 4 with or without kidney cysts, MIM# 617875;van Buchem disease, type 2 607636 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162337 ENSG00000162337 HGNC:6697 LSM1 gene LSM1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31010896 False 1 0;0;100 1.63 True ENSG00000175324 ENSG00000175324 HGNC:20472 LSM11 gene LSM11 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33230297 False 1 0;0;100 1.63 True ENSG00000155858 ENSG00000155858 HGNC:30860 MACROD2 gene MACROD2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31055587 False 1 0;0;100 1.63 True ENSG00000172264 ENSG00000172264 HGNC:16126 MAGT1 gene MAGT1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked intellectual disability MONDO:0100284;Congenital disorder of glycosylation, type Icc, OMIM #301031 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31036665 False 1 0;50;50 1.63 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2A2 gene MAN2A2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36357165 False 1 0;0;100 1.63 True ENSG00000196547 ENSG00000196547 HGNC:6825 MARK4 gene MARK4 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), MARK4-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38041405 False 1 0;100;0 1.63 True Other ENSG00000007047 ENSG00000007047 HGNC:13538 MARS2 gene MARS2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 25754315 False 1 0;50;50 1.63 True ENSG00000247626 ENSG00000247626 HGNC:25133 MCM4 gene MCM4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54;OMIM #609981 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104738 ENSG00000104738 HGNC:6947 MEPCE gene MEPCE Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31467394 False 1 0;0;100 1.63 True ENSG00000146834 ENSG00000146834 HGNC:20247 MET gene MET Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 97, OMIM #616705;{Osteofibrous dysplasia, susceptibility to}, OMIM #607278 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105976 ENSG00000105976 HGNC:7029 METAP1 gene METAP1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, aggression, neurodevelopmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32764695 False 1 0;0;100 1.63 True ENSG00000164024 ENSG00000164024 HGNC:15789 MFN2 gene MFN2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087;Hereditary motor and sensory neuropathy VIA, OMIM #601152 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11;OMIM#615084 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 23313956 False 1 0;0;100 1.63 True ENSG00000125871 ENSG00000125871 HGNC:16205 MGP gene MGP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Keutel syndrome;OMIM #245150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000111341 ENSG00000111341 HGNC:7060 MID2 gene MID2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Mental retardation, X-linked 101;OMIM#300928 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24115387 False 1 0;0;100 1.63 True ENSG00000080561 ENSG00000080561 HGNC:7096 MLH1 gene MLH1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mismatch repair cancer syndrome, OMIM #276300;Muir-Torre syndrome, OMIM #158320 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000076242 ENSG00000076242 HGNC:7127 MNX1 gene MNX1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome;OMIM #176450 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000130675 ENSG00000130675 HGNC:4979 MPI gene MPI Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 1 0;0;100 1.63 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPZ gene MPZ Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Various CMT types Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000158887 ENSG00000158887 HGNC:7225 MRAP gene MRAP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 2;OMIM #607398 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170262 ENSG00000170262 HGNC:1304 MRPS16 gene MRPS16 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 15505824 False 1 0;0;100 1.63 True ENSG00000182180 ENSG00000182180 HGNC:14048 MSH6 gene MSH6 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350;Mismatch repair cancer syndrome, OMIM #276300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116062 ENSG00000116062 HGNC:7329 MTM1 gene MTM1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked;OMIM#310400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR2 gene MTMR2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1;OMIM #601382 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000087053 ENSG00000087053 HGNC:7450 MTPAP gene MTPAP Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive;OMIM#613672 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107951 ENSG00000107951 HGNC:25532 MYH3 gene MYH3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436;Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110;Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000109063 ENSG00000109063 HGNC:7573 MYMK gene MYMK Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome;OMIM #254940 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;100;0 1.63 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYO7A gene MYO7A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 11, OMIM #601317;Deafness, autosomal recessive 2, OMIM #600060;Usher syndrome, type 1B, OMIM #276900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137474 ENSG00000137474 HGNC:7606 MYT1 gene MYT1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000196132 ENSG00000196132 HGNC:7622 NAA30 gene NAA30 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, NAA30-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37387332 False 1 0;0;100 1.63 True ENSG00000139977 ENSG00000139977 HGNC:19844 NAGS gene NAGS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency, MIM#237310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000161653 ENSG00000161653 HGNC:17996 NAT8L gene NAT8L Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11310630;19807691;32275776 False 1 0;50;50 1.63 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDN gene NDN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown "Prader-Willi syndrome, MIM# 176270" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000182636 ENSG00000182636 HGNC:7675 NEGR1 gene NEGR1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000172260 ENSG00000172260 HGNC:17302 NFE2L1 gene NFE2L1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35112409 False 1 0;0;100 1.63 True ENSG00000082641 ENSG00000082641 HGNC:7781 NGF gene NGF Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000134259 ENSG00000134259 HGNC:7808 NHEJ1 gene NHEJ1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16439204 False 1 0;0;100 1.63 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000187566 ENSG00000187566 HGNC:21576 NIN gene NIN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7, MIM#614851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22933543 False 1 0;0;100 1.63 True ENSG00000100503 ENSG00000100503 HGNC:14906 NLGN1 gene NLGN1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;autism;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 30460678 False 1 0;0;100 1.63 True ENSG00000169760 ENSG00000169760 HGNC:14291 NOP10 gene NOP10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17507419 False 1 0;0;100 1.63 True ENSG00000182117 ENSG00000182117 HGNC:14378 NRXN2 gene NRXN2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21424692;30709877;25745399 False 1 0;0;100 1.63 True ENSG00000110076 ENSG00000110076 HGNC:8009 NTNG1 gene NTNG1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162631 ENSG00000162631 HGNC:23319 NUP62 gene NUP62 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, MIM#271930 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16786527 False 1 0;0;100 1.63 True ENSG00000213024 ENSG00000213024 HGNC:8066 ORC1 gene ORC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2;OMIM #613800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3;OMIM #613803 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000091651 ENSG00000091651 HGNC:17151 PANK2 gene PANK2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, MIM#234200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM#120330 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial-deafness-hand syndrome, MIM#122880;Waardenburg syndrome, type 1, MIM#193500;Waardenburg syndrome, type 3, MIM#148820 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135903 ENSG00000135903 HGNC:8617 PAX7 gene PAX7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, MIM# 618578 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000009709 ENSG00000009709 HGNC:8621 PCBD1 gene PCBD1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM#264070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCDH10 gene PCDH10 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27567313;18621663 False 1 0;0;100 1.63 True ENSG00000138650 ENSG00000138650 HGNC:13404 PCDH15 gene PCDH15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 23, MIM#609533 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000150275 ENSG00000150275 HGNC:14674 PCDH9 gene PCDH9 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000184226 ENSG00000184226 HGNC:8661 PCLO gene PCLO Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25832664 False 1 0;100;0 1.63 True ENSG00000186472 ENSG00000186472 HGNC:13406 PDE11A gene PDE11A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 2, MIM#610475 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000128655 ENSG00000128655 HGNC:8773 PDGFB gene PDGFB Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, MIM#615483 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000100311 ENSG00000100311 HGNC:8800 PDSS2 gene PDSS2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3 MIM#614652 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28125198;29032433;25349199;17186472;21723727;10972372 False 1 0;0;100 1.63 True ENSG00000164494 ENSG00000164494 HGNC:23041 PHKA2 gene PHKA2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic 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) Glycogen storage disease, type IXa1, MIM#306000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000044446 ENSG00000044446 HGNC:8926 PHKG2 gene PHKG2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM#613027 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000156873 ENSG00000156873 HGNC:8931 PIGF gene PIGF Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33386993 False 1 0;0;100 1.63 True ENSG00000151665 ENSG00000151665 HGNC:8962 PIK3R1 gene PIK3R1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM#269880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145675 ENSG00000145675 HGNC:8979 PINK1 gene PINK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parkinson disease 6, early onset, MIM#605909 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000158828 ENSG00000158828 HGNC:14581 PIP5K1B gene PIP5K1B Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107242 ENSG00000107242 HGNC:8995 PNP gene PNP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198805 ENSG00000198805 HGNC:7892 POC1A gene POC1A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000164087 ENSG00000164087 HGNC:24488 POLD1 gene POLD1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;immunodeficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31449058 False 1 0;0;100 1.63 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLD2 gene POLD2 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;immunodeficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31449058 False 1 0;0;100 1.63 True ENSG00000106628 ENSG00000106628 HGNC:9176 PON3 gene PON3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105852 ENSG00000105852 HGNC:9206 POP1 gene POP1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, MIM#617396 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38351533 False 1 0;50;50 1.63 True ENSG00000104356 ENSG00000104356 HGNC:30129 POU1F1 gene POU1F1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1, MIM# 613038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPID gene PPID Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stutter disorder, (MONDO:0000723), PPID-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37977818 False 1 0;0;100 1.63 True ENSG00000171497 ENSG00000171497 HGNC:9257 PPOX gene PPOX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria variegata, MIM#176200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM8 gene PRDM8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 10, MIM#616640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22961547 False 1 0;0;100 1.63 True ENSG00000152784 ENSG00000152784 HGNC:13993 PREPL gene PREPL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 22, MIM#616224 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28726805 False 1 0;0;100 1.63 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRF1 gene PRF1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180644 ENSG00000180644 HGNC:9360 PRICKLE1 gene PRICKLE1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Epilepsy, progressive myoclonic 1B, MIM#612437 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRKDC gene PRKDC Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19075392;23722905 False 1 0;0;100 1.63 True ENSG00000253729 ENSG00000253729 HGNC:9413 PRKN gene PRKN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, MIM#600116 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 16, MIM#612067 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000180228 ENSG00000180228 HGNC:9438 PRMT9 gene PRMT9 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0100500, PRMT9-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 38561334 False 1 0;0;100 1.63 True ENSG00000164169 ENSG00000164169 HGNC:25099 PROSER1 gene PROSER1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PROSER1-related;Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35229282 False 1 0;0;100 1.63 True ENSG00000120685 ENSG00000120685 HGNC:20291 PRRX1 gene PRRX1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Agnathia-otocephaly complex, MIM#202650 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000116132 ENSG00000116132 HGNC:9142 PRX gene PRX Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, MIM#614895 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105227 ENSG00000105227 HGNC:13797 PSMC1 gene PSMC1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35861243 False 1 0;0;100 1.63 True ENSG00000100764 ENSG00000100764 HGNC:9547 PYGL gene PYGL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM#232700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000100504 ENSG00000100504 HGNC:9725 RAB27A gene RAB27A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, MIM#607624 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000069974 ENSG00000069974 HGNC:9766 RAB40AL gene RAB40AL Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25044830 False 1 0;0;100 1.63 True ENSG00000102128 ENSG00000102128 HGNC:25410 RALGAPB gene RALGAPB Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorders, autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32853829 False 1 0;0;100 1.63 True ENSG00000170471 ENSG00000170471 HGNC:29221 RANBP2 gene RANBP2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000153201 ENSG00000153201 HGNC:9848 RAPSN gene RAPSN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165917 ENSG00000165917 HGNC:9863 RASA1 gene RASA1 Expert Review;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000145715 ENSG00000145715 HGNC:9871 RAX gene RAX Expert Review;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA, ISOLATED 3;MCOP3 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30762128;24033328 False 1 0;0;100 1.63 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBM8A gene RBM8A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM#274000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Adams-Oliver syndrome 3, MIM#614814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22883147;29924900 False 1 0;0;100 1.63 True ENSG00000168214 ENSG00000168214 HGNC:5724 RDH14 gene RDH14 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RDH14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34848785 False 1 0;0;100 1.63 True ENSG00000240857 ENSG00000240857 HGNC:19979 RECQL4 gene RECQL4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, MIM#218600;RAPADILINO syndrome, MIM#266280;Rothmund-Thomson syndrome, type 2,MIM#268400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000160957 ENSG00000160957 HGNC:9949 RET gene RET Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM#209880;Medullary thyroid carcinoma, MIM#155240;Multiple endocrine neoplasia IIA, MIM#171400;Multiple endocrine neoplasia IIB, MIM#162300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165731 ENSG00000165731 HGNC:9967 RFX6 gene RFX6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, MIM#615710 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185002 ENSG00000185002 HGNC:21478 RIMS1 gene RIMS1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism;Cone-rod dystrophy 7 , MIM#603649 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25284784;12659814 False 1 0;0;100 1.63 True ENSG00000079841 ENSG00000079841 HGNC:17282 RIN2 gene RIN2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000132669 ENSG00000132669 HGNC:18750 RING1 gene RING1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29386386 False 1 0;0;100 1.63 True ENSG00000204227 ENSG00000204227 HGNC:10018 RNF135 gene RNF135 Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000181481 ENSG00000181481 HGNC:21158 RNH1 gene RNH1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RNH1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 36935417 False 1 0;0;100 1.63 True ENSG00000023191 ENSG00000023191 HGNC:10074 RPL11 gene RPL11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM#612562 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPS19 gene RPS19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 1, MIM#105650 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS28 gene RPS28 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000233927 ENSG00000233927 HGNC:10418 RUBCN gene RUBCN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30237576;20826435;23728897 False 1 0;0;100 1.63 True ENSG00000145016 ENSG00000145016 HGNC:28991 SALL1 gene SALL1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000103449 ENSG00000103449 HGNC:10524 SAMD9L gene SAMD9L Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33710394 False 1 0;0;100 1.63 True ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM#260400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19906387 False 1 0;0;100 1.63 True ENSG00000126524 ENSG00000126524 HGNC:19440 SCN11A gene SCN11A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863;HSAN2D, autosomal recessive, MIM#243000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169432 ENSG00000169432 HGNC:10597 SCO1 gene SCO1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11013136;19295170;31352446;23878101 False 1 0;0;100 1.63 True ENSG00000133028 ENSG00000133028 HGNC:10603 SELENOI gene SELENOI Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28052917 False 1 0;0;100 1.63 True ENSG00000138018 ENSG00000138018 HGNC:29361 SELENON gene SELENON Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, MIM# 602771;Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000162430 ENSG00000162430 HGNC:15999 SF3B4 gene SF3B4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type, MIM#154400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000143368 ENSG00000143368 HGNC:10771 SGCA gene SGCA Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108823 ENSG00000108823 HGNC:10805 SH3TC2 gene SH3TC2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, MIM#601596 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000169247 ENSG00000169247 HGNC:29427 SHROOM4 gene SHROOM4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Stocco dos Santos X-linked mental retardation syndrome, 300434;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16249884;26740508 False 1 0;50;50 1.63 True ENSG00000158352 ENSG00000158352 HGNC:29215 SLC12A1 gene SLC12A1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM#601678 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC19A2 gene SLC19A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC1A3 gene SLC1A3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6, MIM#612656 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC20A2 gene SLC20A2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, MIM#213600 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168575 ENSG00000168575 HGNC:10947 SLC22A5 gene SLC22A5 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Carnitine deficiency, systemic primary, MIM#212140 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM#605814 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A19 gene SLC25A19 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, MIM#607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31506564;31295743;12185364;19798730 False 1 0;0;100 1.63 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM#212138 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A24 gene SLC25A24 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, MIM#612289 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A4 gene SLC25A4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC29A3 gene SLC29A3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome;OMIM #602782 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A10 gene SLC2A10 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome;OMIM #208050 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC31A1 gene SLC31A1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35913762;36562171 False 1 0;0;100 1.63 True ENSG00000136868 ENSG00000136868 HGNC:11016 SLC39A4 gene SLC39A4 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica;OMIM #201100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC44A1 gene SLC44A1 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal progressive ataxia;tremor;cognitive decline;dysphagia;optic atrophy;dysarthria Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31855247 False 1 100;0;0 1.63 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC5A2 gene SLC5A2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal glucosuria;OMIM #233100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A4 gene SLC6A4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autism spectrum disorder MONDO:0005258;{Obsessive-compulsive disorder}, MIM# 164230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31629822 False 1 0;0;100 1.63 True ENSG00000108576 ENSG00000108576 HGNC:11050 SLC7A7 gene SLC7A7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC9A9 gene SLC9A9 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown {?Autism susceptibility 16}, MIM# 613410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18621663;31134136;27123481;26755066 False 1 0;0;100 1.63 True ENSG00000181804 ENSG00000181804 HGNC:20653 SLX4 gene SLX4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21240277;21240275;23093618;26453996 False 1 0;0;100 1.63 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMCHD1 gene SMCHD1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosma arhinia microphthalmia syndrome, OMIM #603457;Fascioscapulohumeral muscular dystrophy 2, digenic;OMIM #158901 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101596 ENSG00000101596 HGNC:29090 SMG6 gene SMG6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000070366 ENSG00000070366 HGNC:17809 SNRPA gene SNRPA Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal no OMIM # yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 29437235 False 1 0;0;100 1.63 True ENSG00000077312 ENSG00000077312 HGNC:11151 SNRPE gene SNRPE Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 11;OMIM #615059 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31671093;23246290 False 1 0;0;100 1.63 True ENSG00000182004 ENSG00000182004 HGNC:11161 SOBP gene SOBP Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21035105 False 1 0;0;100 1.63 True ENSG00000112320 ENSG00000112320 HGNC:29256 SOST gene SOST Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860;Sclerosteosis 1 , OMIM #269500;Van Buchem disease, OMIM #239100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000167941 ENSG00000167941 HGNC:13771 SOX8 gene SOX8 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SOX8-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088 False 1 0;0;100 1.63 True ENSG00000005513 ENSG00000005513 HGNC:11203 SP7 gene SP7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII;OMIM # 613849 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPAST gene SPAST Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 4, autosomal dominant, MIM# 182601 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPEG gene SPEG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5;OMIM #615959 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPG7 gene SPG7 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive;OMIM #607259 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 50;0;50 1.63 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPINK5 gene SPINK5 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome;OMIM #256500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000133710 ENSG00000133710 HGNC:15464 SPRTN gene SPRTN Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, MIM# 616200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25261934 False 1 0;0;100 1.63 True ENSG00000010072 ENSG00000010072 HGNC:25356 SPTBN5 gene SPTBN5 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35782384;36117916;36238261 False 1 50;0;50 1.63 True ENSG00000137877 ENSG00000137877 HGNC:15680 SPTLC1 gene SPTLC1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IA;OMIM #162400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000090054 ENSG00000090054 HGNC:11277 SRPX2 gene SRPX2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16497722;23933820;23871722 False 1 0;0;100 1.63 True ENSG00000102359 ENSG00000102359 HGNC:30668 ST7 gene ST7 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000004866 ENSG00000004866 HGNC:11351 STAC3 gene STAC3 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch;OMIM #255995 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000185482 ENSG00000185482 HGNC:28423 STAT5B gene STAT5B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency;OMIM #245590 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173757 ENSG00000173757 HGNC:11367 STK3 gene STK3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000104375 ENSG00000104375 HGNC:11406 STT3B gene STT3B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix;OMIM #615597 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 23842455 False 1 0;0;100 1.63 True ENSG00000163527 ENSG00000163527 HGNC:30611 STX11 gene STX11 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000135604 ENSG00000135604 HGNC:11429 SYT14 gene SYT14 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21835308 False 1 0;0;100 1.63 True ENSG00000143469 ENSG00000143469 HGNC:23143 TDGF1 gene TDGF1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 12073012 False 1 0;0;100 1.63 True ENSG00000241186 ENSG00000241186 HGNC:11701 TECR gene TECR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive, MIM#614020 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21212097 False 1 0;0;100 1.63 True ENSG00000099797 ENSG00000099797 HGNC:4551 TFAP2A gene TFAP2A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome;OMIM #113620 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome, OMIM #169100;Patent ductus arteriosus 2, OMIM #617035 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000008196 ENSG00000008196 HGNC:11743 TFG gene TFG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 57, autosomal recessive, OMIM #615658;Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000114354 ENSG00000114354 HGNC:11758 TG gene TG Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3;OMIM #274700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000042832 ENSG00000042832 HGNC:11764 TGFBR1 gene TGFBR1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1;OMIM #609192 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2;OMIM #610168 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000163513 ENSG00000163513 HGNC:11773 THAP1 gene THAP1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion;OMIM #602629 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome;OMIM #304700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM260 gene TMEM260 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, MIM# 617478 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28318500 False 1 0;0;100 1.63 True ENSG00000070269 ENSG00000070269 HGNC:20185 TMLHE gene TMLHE Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females {Autism, susceptibility to, X-linked 6} 300872 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21865298 False 1 0;100;0 1.63 True ENSG00000185973 ENSG00000185973 HGNC:18308 TP63 gene TP63 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADULT syndrome, OMIM #103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292;Hay-Wells syndrome, OMIM #106260;Limb-mammary syndrome, OMIM #603543;Orofacial cleft 8, OMIM #618149;Rapp-Hodgkin syndrome, OMIM #129400;Split-hand/foot malformation 4, OMIM #605289 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000073282 ENSG00000073282 HGNC:15979 TPH2 gene TPH2 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18347598 False 1 0;0;100 1.63 True ENSG00000139287 ENSG00000139287 HGNC:20692 TPK1 gene TPK1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000196511 ENSG00000196511 HGNC:17358 TPR gene TPR Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34494102 False 1 0;0;100 1.63 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRAPPC6A gene TRAPPC6A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000007255 ENSG00000007255 HGNC:23069 TREM2 gene TREM2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2;OMIM #618193 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000095970 ENSG00000095970 HGNC:17761 TRHR gene TRHR Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 7;OMIM #618573 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174417 ENSG00000174417 HGNC:12299 TRIM32 gene TRIM32 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16606853 False 1 0;0;100 1.63 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism;OMIM #253250 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000108395 ENSG00000108395 HGNC:7523 TSEN34 gene TSEN34 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18711368 False 1 0;0;100 1.63 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSHR gene TSHR Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000165409 ENSG00000165409 HGNC:12373 TTC21B gene TTC21B Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, OMIM #613820;Short-rib thoracic dysplasia 4 with or without polydactyly;OMIM #613819 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTR gene TTR Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, OMIM #105210;Carpal tunnel syndrome, familial;OMIM #115430 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA8 gene TUBA8 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19896110;31481326;28388629 False 1 0;0;100 1.63 True ENSG00000183785 ENSG00000183785 HGNC:12410 TWNK gene TWNK Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245;Perrault syndrome 5, OMIM #616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000107815 ENSG00000107815 HGNC:1160 TXNL4A gene TXNL4A Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141759 ENSG00000141759 HGNC:30551 UBE2U gene UBE2U Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis;cataracts;learning disabilities;developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 33776059 False 1 0;0;100 1.63 True ENSG00000177414 ENSG00000177414 HGNC:28559 UBR4 gene UBR4 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29062094;23982692;28600779 False 1 0;50;50 1.63 True ENSG00000127481 ENSG00000127481 HGNC:30313 UCHL1 gene UCHL1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive;OMIM #615491 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000154277 ENSG00000154277 HGNC:12513 UGT1A1 gene UGT1A1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I, OMIM #218800;Crigler-Najjar syndrome, type II, OMIM #606785 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC13D gene UNC13D Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3;OMIM #608898 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000092929 ENSG00000092929 HGNC:23147 UQCRB gene UQCRB Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3;OMIM #615158 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 12709789;28604960 False 1 0;0;100 1.63 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5;OMIM #615160 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRQ gene UQCRQ Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4;OMIM #615159 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 18439546 False 1 0;100;0 1.63 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19304569;30619714 False 1 0;0;100 1.63 True ENSG00000159650 ENSG00000159650 HGNC:26444 VAMP1 gene VAMP1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 1, autosomal dominant, OMIM #108600;Myasthenic syndrome, congenital, 25, OMIM #618323 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000139190 ENSG00000139190 HGNC:12642 VANGL1 gene VANGL1 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caudal regression syndrome, OMIM #600145;{Neural tube defects, susceptibility to}, OMIM #182940 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000173218 ENSG00000173218 HGNC:15512 VPS45 gene VPS45 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive;OMIM #615285 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000136631 ENSG00000136631 HGNC:14579 WASHC3 gene WASHC3 Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, WASHC3 related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 DOI: https://doi.org/10.1016/j.gimo.2024.101915 False 1 0;0;100 1.63 True ENSG00000120860 ENSG00000120860 HGNC:24256 WASHC5 gene WASHC5 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 8, autosomal dominant, OMIM #603563;Ritscher-Schinzel syndrome 1;OMIM #220210 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 24065355 False 1 0;100;0 1.63 True ENSG00000164961 ENSG00000164961 HGNC:28984 WDR13 gene WDR13 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000101940 ENSG00000101940 HGNC:14352 WDR19 gene WDR19 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376;Nephronophthisis 13, OMIM #614377;Senior-Loken syndrome 8, OMIM#616307 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly;OMIM #615633 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000119333 ENSG00000119333 HGNC:28296 WRAP53 gene WRAP53 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3;OMIM# 613988 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000141499 ENSG00000141499 HGNC:25522 XIST gene XIST Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000229807 ENSG00000229807 HGNC:12810 XPNPEP3 gene XPNPEP3 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20179356 False 1 0;0;100 1.63 True ENSG00000196236 ENSG00000196236 HGNC:28052 YWHAZ gene YWHAZ Expert Review Red;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability, MONDO:0001071 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36001342 False 1 0;0;100 1.63 True ENSG00000164924 ENSG00000164924 HGNC:12855 ZCCHC12 gene ZCCHC12 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000174460 ENSG00000174460 HGNC:27273 ZDHHC15 gene ZDHHC15 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked 91, 300577 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34345675;32989326 False 1 0;0;100 1.63 True ENSG00000102383 ENSG00000102383 HGNC:20342 ZFP57 gene ZFP57 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) {Diabetes mellitus, transient neonatal, 1};OMIM# 601410 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF41 gene ZNF41 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females non-syndromic X-linked intellectual disability MONDO:0019181 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14628291;23871722 False 1 0;0;100 1.63 True ENSG00000147124 ENSG00000147124 HGNC:13107 ZNF423 gene ZNF423 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22863007 False 1 0;100;0 1.63 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF507 gene ZNF507 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000168813 ENSG00000168813 HGNC:23783 ZNF674 gene ZNF674 Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 16385466 False 1 0;0;100 1.63 True ENSG00000251192 ENSG00000251192 HGNC:17625 ZNF804A gene ZNF804A Expert list;Expert Review Red Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000170396 ENSG00000170396 HGNC:21711 ZNF81 gene ZNF81 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked intellectual disability MONDO:0100284 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15121780 False 1 0;33;67 1.63 True ENSG00000197779 ENSG00000197779 HGNC:13156 ZNHIT6 gene ZNHIT6 Expert Review Red;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 1 0;0;100 1.63 True ENSG00000117174 ENSG00000117174 HGNC:26089