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 AASS gene AASS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23570448 False 2 0;100;0 1.63 True ENSG00000008311 ENSG00000008311 HGNC:17366 ACACA gene ACACA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency, MIM# 613933 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34552920;10677481;16717184;36709796 False 2 0;100;0 1.63 True ENSG00000132142 ENSG00000278540 HGNC:84 ACADS gene ACADS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, MIM# 610006 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000196177 ENSG00000196177 HGNC:91 ACAT1 gene ACAT1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM# 203750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000075239 ENSG00000075239 HGNC:93 ADCY5 gene ADCY5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22782511;24700542;33051786;32647899;33704598;34631954;28971144;30975617 False 2 0;100;0 1.63 True ENSG00000173175 ENSG00000173175 HGNC:236 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37821758 False 2 100;0;0 1.63 True ENSG00000160216 ENSG00000160216 HGNC:326 AKAP6 gene AKAP6 Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, AKAP6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28600779 False 2 0;100;0 1.63 True ENSG00000151320 ENSG00000151320 HGNC:376 ALDOA gene ALDOA Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, MIM#611881 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000149925 ENSG00000149925 HGNC:414 ALX1 gene ALX1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3, MIM#613456 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27324866;20451171;23059813 False 2 0;100;0 1.63 True ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, MIM#136760 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19409524 False 2 0;100;0 1.63 True ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 2, MIM# 613451 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19409524 False 2 0;100;0 1.63 True ENSG00000052850 ENSG00000052850 HGNC:450 ANAPC7 gene ANAPC7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34942119 False 2 0;100;0 1.63 True ENSG00000196510 ENSG00000196510 HGNC:17380 AP2S1 gene AP2S1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorder Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000042753 ENSG00000042753 HGNC:565 AQP4 gene AQP4 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 37143309 False 2 0;100;0 1.63 True ENSG00000171885 ENSG00000171885 HGNC:637 ARHGAP31 gene ARHGAP31 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1, MIM#100300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGEF40 gene ARHGEF40 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 39838643 False 2 0;50;50 1.63 True ENSG00000165801 ENSG00000165801 HGNC:25516 ARNT2 gene ARNT2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Webb-Dattani syndrome 615926 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24022475 False 2 0;100;0 1.63 True ENSG00000172379 ENSG00000172379 HGNC:16876 ASTN2 gene ASTN2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28940097;34412080;27138430 False 2 0;100;0 1.63 True ENSG00000148219 ENSG00000148219 HGNC:17021 ATAD2B gene ATAD2B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ATAD2B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39313616 False 2 0;100;0 1.63 True ENSG00000119778 ENSG00000119778 HGNC:29230 ATM gene ATM Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Ataxia-telangiectasia, MIM#208900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP11A gene ATP11A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34403372 False 2 0;100;0 1.63 True Other ENSG00000068650 ENSG00000068650 HGNC:13552 ATP13A2 gene ATP13A2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, MIM# 606693 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP5E gene ATP5E Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34954817;20566710;27626380;20026007 False 2 0;100;0 1.63 True ENSG00000124172 ENSG00000124172 HGNC:838 ATXN2L gene ATXN2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macrocephaly;intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33283965;33057194 False 2 0;100;0 1.63 True ENSG00000168488 ENSG00000168488 HGNC:31326 B3GALT6 gene B3GALT6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000176022 ENSG00000176022 HGNC:17978 B9D1 gene B9D1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 27, MIM#617120;Meckel syndrome 9, MIM#614209 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24886560;21493627 False 2 50;50;0 1.63 True ENSG00000108641 ENSG00000108641 HGNC:24123 BAZ2B gene BAZ2B Expert Review Amber;Literature 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 31999386 False 2 50;50;0 1.63 True ENSG00000123636 ENSG00000123636 HGNC:963 BBIP1 gene BBIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24026985 False 2 0;100;0 1.63 True ENSG00000214413 ENSG00000214413 HGNC:28093 BCORL1 gene BCORL1 Expert Review Amber;Literature 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) Shukla-Vernon syndrome, MIM#301029 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24123876;30941876 False 2 100;0;0 1.63 True ENSG00000085185 ENSG00000085185 HGNC:25657 BRIP1 gene BRIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1 gene BUB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary microcephaly-30 (MCPH30), MIM#620183 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35044816;19772675;19117986;23209306 False 2 50;50;0 1.63 True ENSG00000169679 ENSG00000169679 HGNC:1148 C8orf37 gene C8orf37 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26854863;27008867 False 2 0;100;0 1.63 True ENSG00000156172 ENSG00000156172 HGNC:27232 CACNB4 gene CACNB4 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;psychomotor retardation;blindness;epilepsy;movement disorder;cerebellar atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32176688 False 2 0;100;0 1.63 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 59, MIM# 618522" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30184290;23033978 False 2 0;100;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148660 ENSG00000148660 HGNC:1463 CCDC174 gene CCDC174 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26358778 False 2 0;100;0 1.63 True Other ENSG00000154781 ENSG00000154781 HGNC:28033 CCDC78 gene CCDC78 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 4, MIM#614807 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22818856 False 2 0;100;0 1.63 True ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC84 gene CCDC84 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34009673 False 2 0;100;0 1.63 True ENSG00000186166 ENSG00000186166 HGNC:30460 CD96 gene CD96 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17847009 False 2 0;100;0 1.63 True ENSG00000153283 ENSG00000153283 HGNC:16892 CDK6 gene CDK6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23918663 False 2 0;100;0 1.63 True ENSG00000105810 ENSG00000105810 HGNC:1777 CDKN1C gene CDKN1C Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IMAGE syndrome, MIM# 614732 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000129757 ENSG00000129757 HGNC:1786 CEP63 gene CEP63 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, MIM#614728 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21983783;26158450 False 2 0;100;0 1.63 True ENSG00000182923 ENSG00000182923 HGNC:25815 CEP89 gene CEP89 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23575228 False 2 0;100;0 1.63 True ENSG00000121289 ENSG00000121289 HGNC:25907 CHMP3 gene CHMP3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35710109 False 2 0;100;0 1.63 True ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability;autism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34212451;31981491;12483218 False 2 0;100;0 1.63 True ENSG00000168539 ENSG00000168539 HGNC:1950 CHST14 gene CHST14 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25703627 False 2 0;100;0 1.63 True ENSG00000169105 ENSG00000169105 HGNC:24464 CLCN2 gene CLCN2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, MIM#615651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23707145 False 2 0;100;0 1.63 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN7 gene CLCN7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31155284 False 2 0;100;0 1.63 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CNKSR1 gene CNKSR1 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30450701;30237576;21937992 False 2 0;100;0 1.63 True ENSG00000142675 ENSG00000142675 HGNC:19700 COG3 gene COG3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37711075 False 2 0;100;0 1.63 True ENSG00000136152 ENSG00000136152 HGNC:18619 COPB1 gene COPB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33632302 False 2 0;100;0 1.63 True ENSG00000129083 ENSG00000129083 HGNC:2231 COQ2 gene COQ2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM#607426 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ9 gene COQ9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, MIM#614654 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX14 gene COX14 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22243966 False 2 0;100;0 1.63 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX20 gene COX20 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31079202;30656193;24202787 False 2 0;0;100 1.63 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX7B gene COX7B Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Linear skin defects with multiple congenital anomalies 2, MIM#300887 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23122588 False 2 0;100;0 1.63 True ENSG00000131174 ENSG00000131174 HGNC:2291 CRBN gene CRBN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Mental retardation, autosomal recessive 2, MIM# 607417 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15557513;28143899 False 2 0;100;0 1.63 True ENSG00000113851 ENSG00000113851 HGNC:30185 CSF1R gene CSF1R Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476;BANDDOS Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30982609;33749994;34135456 False 2 0;100;0 1.63 True ENSG00000182578 ENSG00000182578 HGNC:2433 CSTF2 gene CSTF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 113, MIM# 301116 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32816001 False 2 0;100;0 1.63 True ENSG00000101811 ENSG00000101811 HGNC:2484 CTC1 gene CTC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTNND1 gene CTNND1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharocheilodontic syndrome 2, MIM# 617681 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28301459;32196547 False 2 0;100;0 1.63 True ENSG00000198561 ENSG00000198561 HGNC:2515 CTNND2 gene CTNND2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, CTNND2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25839933;29127138;25807484 False 2 0;100;0 1.63 True ENSG00000169862 ENSG00000169862 HGNC:2516 DCAF15 gene DCAF15 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000132017 ENSG00000132017 HGNC:25095 DDOST gene DDOST Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22305527 False 2 0;100;0 1.63 True ENSG00000244038 ENSG00000244038 HGNC:2728 DHTKD1 gene DHTKD1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MIM#204750;Disorders of histidine, tryptophan or lysine metabolism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23141293;37499576;1112064;6434826;4442872;4430147 False 2 0;100;0 1.63 True ENSG00000181192 ENSG00000181192 HGNC:23537 DHX32 gene DHX32 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DHX32-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32989326 False 2 0;100;0 1.63 True ENSG00000089876 ENSG00000089876 HGNC:16717 DLAT gene DLAT Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, MIM#245348 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000150768 ENSG00000150768 HGNC:2896 DLG2 gene DLG2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability (MONDO#0001071), DLG2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37860969 False 2 0;100;0 1.63 True ENSG00000150672 ENSG00000150672 HGNC:2901 DPH2 gene DPH2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062;Diphthamide-deficiency syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32576952;27421267 False 2 0;100;0 1.63 True ENSG00000132768 ENSG00000132768 HGNC:3004 DPYD gene DPYD Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency (MIM#274270) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10071185;25565930;30349988;28275972;17065071;21114665;22003227;28123791 False 2 0;100;0 1.63 True ENSG00000188641 ENSG00000188641 HGNC:3012 DPYSL2 gene DPYSL2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown intellectual disability, MONDO:0001071, DPYSL2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27249678;35861646 False 2 0;100;0 1.63 True ENSG00000092964 ENSG00000092964 HGNC:3014 DROSHA gene DROSHA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35405010 False 2 0;100;0 1.63 True ENSG00000113360 ENSG00000113360 HGNC:17904 DSCAM gene DSCAM Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism;ID Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 27824329;28191889;21904980 False 2 100;0;0 1.63 True ENSG00000171587 ENSG00000171587 HGNC:3039 EEF1D gene EEF1D Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, EEF1D-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30787422;28097321 False 2 0;100;0 1.63 True ENSG00000104529 ENSG00000104529 HGNC:3211 EIF2A gene EIF2A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31130284 False 2 0;100;0 1.63 True ENSG00000144895 ENSG00000144895 HGNC:3254 EIF3I gene EIF3I Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000084623 ENSG00000084623 HGNC:3272 EMG1 gene EMG1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, MIM#211180 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19463982 False 2 0;100;0 1.63 True ENSG00000126749 ENSG00000126749 HGNC:16912 EMX2 gene EMX2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 1.63 True ENSG00000170370 ENSG00000170370 HGNC:3341 EPHA7 gene EPHA7 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092,EPHA7-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34176129 False 2 0;100;0 1.63 True ENSG00000135333 ENSG00000135333 HGNC:3390 ERBB4 gene ERBB4 Expert Review Amber;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 33603162 False 2 100;0;0 1.63 True ENSG00000178568 ENSG00000178568 HGNC:3432 ERGIC3 gene ERGIC3 Expert Review Amber;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 33710394;31585110 False 2 0;100;0 1.63 True ENSG00000125991 ENSG00000125991 HGNC:15927 EXOC2 gene EXOC2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306;Global developmental delay;Intellectual disability;Abnormality of the face;Abnormality of brain morphology Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32639540 False 2 0;100;0 1.63 True ENSG00000112685 ENSG00000112685 HGNC:24968 EXOSC2 gene EXOSC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26843489;31628467 False 2 100;0;0 1.63 True ENSG00000130713 ENSG00000130713 HGNC:17097 FANCB gene FANCB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group B, MIM# 300514 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCD2 gene FANCD2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group D2, MIM# 227646" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCG gene FANCG Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, MIM# 614082 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000221829 ENSG00000221829 HGNC:3588 FGFR2 gene FGFR2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410;Apert syndrome, MIM# 101200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000066468 ENSG00000066468 HGNC:3689 FIBP gene FIBP Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thauvin-Robinet-Faivre syndrome, MIM#617107 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26660953;27183861 False 2 0;100;0 1.63 True ENSG00000172500 ENSG00000172500 HGNC:3705 FICD gene FICD Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, FICD-related (MONDO#0700092) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36704923 False 2 0;100;0 1.63 True ENSG00000198855 ENSG00000198855 HGNC:18416 FKBP4 gene FKBP4 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000004478 ENSG00000004478 HGNC:3720 FOXR1 gene FOXR1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Postnatal microcephaly, progressive brain atrophy and global developmental delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34723967 False 2 0;100;0 1.63 True ENSG00000176302 ENSG00000176302 HGNC:29980 FRMD4A gene FRMD4A Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25388005;30214071 False 2 0;100;0 1.63 True ENSG00000151474 ENSG00000151474 HGNC:25491 FRY gene FRY Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;no OMIM number yet Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31487712;27457812;21937992 False 2 0;100;0 1.63 True ENSG00000073910 ENSG00000073910 HGNC:20367 FTCD gene FTCD Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency MIM#229100 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 http://iembase.com/disorder/47;29178637;30740726 False 2 0;100;0 1.63 True ENSG00000160282 ENSG00000160282 HGNC:3974 GBA gene GBA Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type II 230900 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000177628 ENSG00000177628 HGNC:4177 GLYCTK gene GLYCTK Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria MONDO:0009070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31837836;3588091;30637540;28462797;20949620;28190537 False 2 0;100;0 1.63 True ENSG00000168237 ENSG00000168237 HGNC:24247 GMNN gene GMNN Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Meier-Gorlin syndrome 6, MIM# 616835" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26637980 False 2 0;100;0 1.63 True ENSG00000112312 ENSG00000112312 HGNC:17493 GNAI2 gene GNAI2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31036916 False 2 0;100;0 1.63 True ENSG00000114353 ENSG00000114353 HGNC:4385 GNAQ gene GNAQ Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders Unknown Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000156052 ENSG00000156052 HGNC:4390 GORAB gene GORAB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, MIM#231070 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPHN gene GPHN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM#615501 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11095995;22040219;26613940;24561070;23393157 False 2 0;100;0 1.63 True ENSG00000171723 ENSG00000171723 HGNC:15465 GPN2 gene GPN2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Perrault syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000142751 ENSG00000142751 HGNC:25513 GSX2 gene GSX2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31412107 False 2 0;100;0 1.63 True ENSG00000180613 ENSG00000180613 HGNC:24959 GTF2E2 gene GTF2E2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 28973399 False 2 0;100;0 1.63 True ENSG00000197265 ENSG00000197265 HGNC:4651 HARS gene HARS Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome;mild-severe intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32333447 False 2 0;100;0 1.63 True ENSG00000170445 ENSG00000170445 HGNC:4816 HAX1 gene HAX1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000143575 ENSG00000143575 HGNC:16915 HCN2 gene HCN2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), HCN2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000099822 ENSG00000099822 HGNC:4846 HEATR3 gene HEATR3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability;Diamond-Blackfan anaemia 21, MIM# 620072 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35213692 False 2 0;100;0 1.63 True ENSG00000155393 ENSG00000155393 HGNC:26087 HEATR5B gene HEATR5B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33824466 False 2 0;100;0 1.63 True ENSG00000008869 ENSG00000008869 HGNC:29273 HIST1H4D gene HIST1H4D Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35202563 False 2 0;100;0 1.63 True - - HGNC:4782 HIST1H4F gene HIST1H4F Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 35202563 False 2 0;100;0 1.63 True - - HGNC:4783 HIST1H4J gene HIST1H4J Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31804630;35202563 False 2 0;100;0 1.63 True ENSG00000197238 ENSG00000197238 HGNC:4785 HSPA9 gene HSPA9 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM 616854;skeletal anomalies;congenital cardiac and renal anom Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32869452;26598328 False 2 0;100;0 1.63 True ENSG00000113013 ENSG00000113013 HGNC:5244 HTT gene HTT Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lopes-Maciel-Rodan syndrome, 617435;LOMARS;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26740508;27329733;33432339 False 2 0;100;0 1.63 True ENSG00000197386 ENSG00000197386 HGNC:4851 HYLS1 gene HYLS1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, MIM#236680 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICE1 gene ICE1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, cerebral atrophy Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31130284 False 2 0;100;0 1.63 True ENSG00000164151 ENSG00000164151 HGNC:29154 IMPA1 gene IMPA1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 59, MIM#617323 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26416544;30616629 False 2 0;100;0 1.63 True ENSG00000133731 ENSG00000133731 HGNC:6050 IQSEC3 gene IQSEC3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Fetal akinesia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32049026;31130284;31680123 False 2 0;100;0 1.63 True ENSG00000120645 ENSG00000120645 HGNC:29193 ITCH gene ITCH Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20170897;31091003 False 2 0;100;0 1.63 True ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA7 gene ITGA7 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 9590299 False 2 0;100;0 1.63 True ENSG00000135424 ENSG00000135424 HGNC:6143 ITGAV gene ITGAV Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39526957 False 2 0;100;0 1.63 True ENSG00000138448 ENSG00000138448 HGNC:6150 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29158550;26627310;27799067 False 2 0;100;0 1.63 True ENSG00000152969 ENSG00000152969 HGNC:26460 JPH3 gene JPH3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, JPH3-related;Intellectual disability;dystonia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33824468;36273396 False 2 0;50;50 1.63 True ENSG00000154118 ENSG00000154118 HGNC:14203 KCNJ1 gene KCNJ1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNK3 gene KCNK3 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 50;50;0 1.63 True ENSG00000171303 ENSG00000171303 HGNC:6278 KIAA0391 gene KIAA0391 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, MIM# 619737 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 34715011 False 2 0;50;50 1.63 True ENSG00000100890 ENSG00000100890 HGNC:19958 KIF5A gene KIF5A Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant, MIM# 604187;inherited neurodegenerative disorder MONDO:0024237 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18853458 False 2 0;100;0 1.63 True ENSG00000155980 ENSG00000155980 HGNC:6323 KLHL15 gene KLHL15 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 103, MIM#300982 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25644381;24817631 False 2 0;100;0 1.63 True ENSG00000174010 ENSG00000174010 HGNC:29347 LAMC3 gene LAMC3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Cortical malformations, occipital, MIM# 614115 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38758065;21572413 False 2 0;50;50 1.63 True ENSG00000050555 ENSG00000050555 HGNC:6494 LEO1 gene LEO1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, LEO-1 related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38965372 False 2 0;100;0 1.63 True ENSG00000166477 ENSG00000166477 HGNC:30401 LINGO1 gene LINGO1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64, MIM#618103 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28837161 False 2 0;100;0 1.63 True ENSG00000169783 ENSG00000169783 HGNC:21205 LIPT2 gene LIPT2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28757203 False 2 0;100;0 1.63 True ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 52 OMIM #616887;Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31020005;26566883 False 2 0;100;0 1.63 True ENSG00000114988 ENSG00000114988 HGNC:19263 LRRC32 gene LRRC32 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30976112 False 2 0;100;0 1.63 True ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC45 gene LRRC45 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, LRRC45-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39638757 False 2 0;100;0 1.63 True ENSG00000169683 ENSG00000169683 HGNC:28302 LRRC8C gene LRRC8C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39623139 False 2 0;100;0 1.63 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 LYST gene LYST Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAL gene MAL Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35217805 False 2 0;100;0 1.63 True ENSG00000172005 ENSG00000172005 HGNC:6817 MANF gene MANF Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26077850;33500254;34815294 False 2 0;100;0 1.63 True ENSG00000145050 ENSG00000145050 HGNC:15461 MCCC1 gene MCCC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200;Organic acidurias Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36822454;31730530 False 2 0;100;0 1.63 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34899149 False 2 0;100;0 1.63 True ENSG00000131844 ENSG00000131844 HGNC:6937 MED22 gene MED22 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000148297 ENSG00000148297 HGNC:11477 MGA gene MGA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, MGA-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39600096;20044811 False 2 0;100;0 1.63 True ENSG00000174197 ENSG00000174197 HGNC:14010 MKL2 gene MKL2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), MKL2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37013900 False 2 0;100;0 1.63 True Other ENSG00000186260 ENSG00000186260 HGNC:29819 MMGT1 gene MMGT1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, MMGT1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000169446 ENSG00000169446 HGNC:28100 MOCS3 gene MOCS3 Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency MONDO:0020480 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33897766;28544736 False 2 0;100;0 1.63 True ENSG00000124217 ENSG00000124217 HGNC:15765 MRPL3 gene MRPL3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9;OMIM #614582 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 27815843;21786366 False 2 0;100;0 1.63 True ENSG00000114686 ENSG00000114686 HGNC:10379 NBN gene NBN Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPG2 gene NCAPG2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Khan-Khan-Katsanis syndrome, MIM# 618460 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30609410 False 2 50;50;0 1.63 True ENSG00000146918 ENSG00000146918 HGNC:21904 NDUFA10 gene NDUFA10 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21150889;26741492 False 2 0;100;0 1.63 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18306244;31074871 False 2 0;100;0 1.63 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37- 619272;Epilepsy;Microcephaly;Developmental Delay Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32385911;33153867 False 2 0;100;0 1.63 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, MIM#618247 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28671271;22114105 False 2 0;100;0 1.63 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF2 gene NDUFAF2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18180188;20571988;19384974;16200211 False 2 0;100;0 1.63 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, MIM#618240 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19463981 False 2 0;100;0 1.63 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, MIM#618237 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18179882;28853723 False 2 0;100;0 1.63 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 19542079;21607760;18940309 False 2 0;100;0 1.63 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, MIM#618239 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26741492;18614015 False 2 0;100;0 1.63 True ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFB3 gene NDUFB3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM#618246 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22277967;22499348;27091925 False 2 0;100;0 1.63 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB9 gene NDUFB9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22200994;38129218 False 2 0;100;0 1.63 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS2 gene NDUFS2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, MIM#618228 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 11220739;31411514;29272804 False 2 0;100;0 1.63 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, MIM#618230 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 14729820;22499348;30140060 False 2 0;100;0 1.63 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS6 gene NDUFS6 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, MIM#618232 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15372108;19259137;30948790;22474353 False 2 0;100;0 1.63 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFV2 gene NDUFV2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, MIM#618229 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12754703;26008862;29554876 False 2 0;100;0 1.63 True ENSG00000178127 ENSG00000178127 HGNC:7717 NECAP1 gene NECAP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, MIM#615833 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24399846;30626896;30525121 False 2 100;0;0 1.63 True ENSG00000089818 ENSG00000089818 HGNC:24539 NHP2 gene NHP2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987;H yeraal-Hreidarsson syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18523010;31985013 False 2 0;100;0 1.63 True ENSG00000145912 ENSG00000145912 HGNC:14377 NMNAT1 gene NMNAT1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32533184;33668384 False 2 0;100;0 1.63 True ENSG00000173614 ENSG00000173614 HGNC:17877 NSF gene NSF Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 96, MIM# 619340;Seizures;EEG with burst suppression;Global developmental delay;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31675180 False 2 0;100;0 1.63 True ENSG00000073969 ENSG00000073969 HGNC:8016 NUP85 gene NUP85 Expert Review Amber;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 34170319;30179222 False 2 0;100;0 1.63 True ENSG00000125450 ENSG00000125450 HGNC:8734 OTUD7A gene OTUD7A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31997314;29395075;29395074;33381903 False 2 0;50;50 1.63 True ENSG00000169918 ENSG00000169918 HGNC:20718 PAX1 gene PAX1 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, 615560 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29681087;23851939;28657137 False 2 0;100;0 1.63 True ENSG00000125813 ENSG00000125813 HGNC:8615 PCNT gene PCNT Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34978779 False 2 0;100;0 1.63 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, MIM# 620047 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 32286682 False 2 0;50;50 1.63 True ENSG00000170248 ENSG00000170248 HGNC:8766 PDE2A gene PDE2A Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Paroxysmal dyskinesia;Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32467598;32196122;29392776 False 2 50;50;0 1.63 True ENSG00000186642 ENSG00000186642 HGNC:8777 PHC1 gene PHC1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, MIM#615414 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23418308 False 2 0;100;0 1.63 True ENSG00000111752 ENSG00000111752 HGNC:3182 PIEZO2 gene PIEZO2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marden-Walker syndrome, MIM# 248700;Arthrogryposis, distal, type 3, MIM# 114300 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24726473 False 2 0;100;0 1.63 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIGY gene PIGY Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26293662 False 2 0;100;0 1.63 True ENSG00000255072 ENSG00000255072 HGNC:28213 PJA1 gene PJA1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;trigonocephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32530565 False 2 0;100;0 1.63 True ENSG00000181191 ENSG00000181191 HGNC:16648 PLCH1 gene PLCH1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Holoprosencephaly 14, MIM# 619895 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33820834 False 2 0;100;0 1.63 True ENSG00000114805 ENSG00000114805 HGNC:29185 PLEKHG2 gene PLEKHG2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26539891;24001768;26573021 False 2 0;100;0 1.63 True ENSG00000090924 ENSG00000090924 HGNC:29515 PLOD3 gene PLOD3 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM#612394 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18834968;31129566;30237576;30463024 False 2 0;100;0 1.63 True ENSG00000106397 ENSG00000106397 HGNC:9083 PLXNA2 gene PLXNA2 Expert Review Amber;Literature;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Abnormality of the face;Failure to thrive;Abnormal heart morphology Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34327814 False 2 0;100;0 1.63 True ENSG00000076356 ENSG00000076356 HGNC:9100 PPM1K gene PPM1K Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, mild variant, MIM#615135 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23086801;36706222 False 2 0;100;0 1.63 True ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26159176;26307080;27640355 False 2 0;100;0 1.63 True ENSG00000158615 ENSG00000158615 HGNC:14951 PPP2R2B gene PPP2R2B Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25356899;39565297 False 2 0;100;0 1.63 True ENSG00000156475 ENSG00000156475 HGNC:9305 PPP5C gene PPP5C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PPP5C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35361529;25363768;33057194 False 2 0;100;0 1.63 True ENSG00000011485 ENSG00000011485 HGNC:9322 PRICKLE2 gene PRICKLE2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34092786;21276947;26942291;26942292 False 2 50;50;0 1.63 True ENSG00000163637 ENSG00000163637 HGNC:20340 PRKD1 gene PRKD1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and ectodermal dysplasia, 617364 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32817298;27479907 False 2 50;50;0 1.63 True ENSG00000184304 ENSG00000184304 HGNC:9407 PRRT2 gene PRRT2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066;Episodic kinesigenic dyskinesia 1, MIM# 128200;Seizures, benign familial infantile, 2, MIM# 605751;intellectual disability, autosomal recessive Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 23352743;25595153;23398397 False 2 0;100;0 1.63 True ENSG00000167371 ENSG00000167371 HGNC:30500 PRSS12 gene PRSS12 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, PRSS12 related MIM#249500 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 12459588;22090715;23344636 False 2 0;50;50 1.63 True ENSG00000164099 ENSG00000164099 HGNC:9477 PSAT1 gene PSAT1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency, MIM# 610992;Neu-Laxova syndrome 2, MIM# 616038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26960553;17436247;25152457 False 2 0;100;0 1.63 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB1 gene PSMB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32129449 False 2 0;100;0 1.63 True ENSG00000008018 ENSG00000008018 HGNC:9537 PTPA gene PTPA Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Parkinsonism Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36073231 False 2 0;100;0 1.63 True ENSG00000119383 ENSG00000119383 HGNC:9308 RAB14 gene RAB14 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000119396 ENSG00000119396 HGNC:16524 RAB1A gene RAB1A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, RAB1A-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37924809 False 2 0;100;0 1.63 True ENSG00000138069 ENSG00000138069 HGNC:9758 RBM28 gene RBM28 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18439547;33941690 False 2 0;100;0 1.63 True ENSG00000106344 ENSG00000106344 HGNC:21863 RBMX gene RBMX Expert Review;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238;Gustavson syndrome, MIM# 309555 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25256757;34260915;37277488 False 2 0;100;0 1.63 True ENSG00000147274 ENSG00000147274 HGNC:9910 REPS2 gene REPS2 Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females complex neurodevelopmental disorder MONDO:0100038;Cerebral palsy HP:0100021 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000169891 ENSG00000169891 HGNC:9963 RIC1 gene RIC1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cleft lip;cataract;tooth abnormality;intellectual disability;facial dysmorphism;ADHD Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 31932796 False 2 0;100;0 1.63 True ENSG00000107036 ENSG00000107036 HGNC:17686 RMRP gene RMRP Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 1, MIM#607095 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNF2 gene RNF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lou-Schoch-Yamamoto syndrome , MIM#619460;epilepsy;intellectual disability;intrauterine growth retardation Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33864376 False 2 0;100;0 1.63 True ENSG00000121481 ENSG00000121481 HGNC:10061 RNPC3 gene RNPC3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29866761;32462814;33650182 False 2 0;100;0 1.63 True ENSG00000185946 ENSG00000185946 HGNC:18666 RPS23 gene RPS23 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28257692 False 2 0;100;0 1.63 True ENSG00000186468 ENSG00000186468 HGNC:10410 RREB1 gene RREB1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy, MONDO:0021060, RREB1-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32938917;38332451 False 2 0;100;0 1.63 True ENSG00000124782 ENSG00000124782 HGNC:10449 RSPRY1 gene RSPRY1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26365341 False 2 0;100;0 1.63 True ENSG00000159579 ENSG00000159579 HGNC:29420 RUSC2 gene RUSC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27612186 False 2 0;100;0 1.63 True ENSG00000198853 ENSG00000198853 HGNC:23625 SACS gene SACS Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28843771;20876471;28658676;27871429 False 2 0;100;0 1.63 True ENSG00000151835 ENSG00000151835 HGNC:10519 SEC31A gene SEC31A Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30464055 False 2 0;100;0 1.63 True ENSG00000138674 ENSG00000138674 HGNC:17052 SEMA3E gene SEMA3E Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM#214800 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 15235037;31691538;31464029 False 2 0;100;0 1.63 True ENSG00000170381 ENSG00000170381 HGNC:10727 SEMA5A gene SEMA5A Expert Review Amber;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: 26395558 False 2 0;100;0 1.63 True ENSG00000112902 ENSG00000112902 HGNC:10736 SLC1A1 gene SLC1A1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM#222730 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC2A2 gene SLC2A2 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC35A1 gene SLC35A1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28856833;23873973;11157507 False 2 0;100;0 1.63 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures OMIM #615553;Skeletal dysplasia Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28328131;24031089;28777481 False 2 0;100;0 1.63 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 35325049 False 2 0;100;0 1.63 True ENSG00000157593 ENSG00000157593 HGNC:16872 SLC35F1 gene SLC35F1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33821533 False 2 0;100;0 1.63 True ENSG00000196376 ENSG00000196376 HGNC:21483 SLC5A5 gene SLC5A5 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1, MIM# 274400 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000105641 ENSG00000105641 HGNC:11040 SLC6A17 gene SLC6A17 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 48, MIM# 616269 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25704603;23672601 False 2 0;100;0 1.63 True ENSG00000197106 ENSG00000197106 HGNC:31399 SLC9A7 gene SLC9A7 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108;OMIM #301024 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 30335141 False 2 0;100;0 1.63 True ENSG00000065923 ENSG00000065923 HGNC:17123 SMARCD2 gene SMARCD2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 26350204;28369036 False 2 0;100;0 1.63 True ENSG00000108604 ENSG00000108604 HGNC:11107 SNIP1 gene SNIP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22279524;34570759 False 2 0;100;0 1.63 True ENSG00000163877 ENSG00000163877 HGNC:30587 SNORD118 gene SNORD118 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27571260 False 2 0;100;0 1.63 True ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPN gene SNRPN Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Prader-Willi syndrome;OMIM #176270 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000128739 ENSG00000128739 HGNC:11164 SOX3 gene SOX3 Expert Review Amber;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, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29175558;30125608;12428212;15800844 False 2 0;100;0 1.63 True Other ENSG00000134595 ENSG00000134595 HGNC:11199 SOX9 gene SOX9 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted campomelic dysplasia MONDO:0007251 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 20301724;26663529;21373255 False 2 0;50;50 1.63 True ENSG00000125398 ENSG00000125398 HGNC:11204 SREBF2 gene SREBF2 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38847193 False 2 0;100;0 1.63 True ENSG00000198911 ENSG00000198911 HGNC:11290 STN1 gene STN1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32627942;27432940 False 2 0;0;0 1.63 True ENSG00000107960 ENSG00000107960 HGNC:26200 SV2A gene SV2A Expert Review Amber;Literature 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 Neurodevelopmental disorder, MONDO:0700092, SV2A-related;Developmental and epileptic encephalopathy 113, MIM# 620772 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 37985816 False 2 0;100;0 1.63 True ENSG00000159164 ENSG00000159164 HGNC:20566 TACO1 gene TACO1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency;OMIM #220110 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 19503089;20727754;25044680 False 2 0;100;0 1.63 True ENSG00000136463 ENSG00000136463 HGNC:24316 TAF13 gene TAF13 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 60, MIM# 617432 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28257693 False 2 0;100;0 1.63 True ENSG00000197780 ENSG00000197780 HGNC:11546 TAF1C gene TAF1C Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32779182 False 2 0;100;0 1.63 True ENSG00000103168 ENSG00000103168 HGNC:11534 TARS gene TARS Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 7, nonphotosensitive;OMIM #618546 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 31374204 False 2 0;100;0 1.63 True ENSG00000113407 ENSG00000113407 HGNC:11572 TGFB1 gene TGFB1 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 29483653 False 2 0;100;0 1.63 True ENSG00000105329 ENSG00000105329 HGNC:11766 THG1L gene THG1L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28 - 618800;Epilepsy;Intellectual Disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33682303 False 2 0;100;0 1.63 True ENSG00000113272 ENSG00000113272 HGNC:26053 THRB gene THRB Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thyroid hormone resistance, autosomal recessive, MIM# 274300;Thyroid hormone resistance, autosomal dominant, MIM# 188570 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 22319036;1682340 False 2 0;100;0 1.63 True ENSG00000151090 ENSG00000151090 HGNC:11799 TKFC gene TKFC Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 32004446 False 2 0;100;0 1.63 True ENSG00000149476 ENSG00000149476 HGNC:24552 TKT gene TKT Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects;OMIM #617044 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 27259054 False 2 50;50;0 1.63 True ENSG00000163931 ENSG00000163931 HGNC:11834 TMEM231 gene TMEM231 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, OMIM #614970;Meckel syndrome 11, OMIM #615397 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 23012439 False 2 0;100;0 1.63 True ENSG00000205084 ENSG00000205084 HGNC:37234 TNIK gene TNIK Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 54, MIM# 617028 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27106596;23035106 False 2 0;100;0 1.63 True ENSG00000154310 ENSG00000154310 HGNC:30765 TOP2B gene TOP2B Expert list;Expert Review Amber 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 31953910;28343847;12773624 False 2 0;100;0 1.63 True ENSG00000077097 ENSG00000077097 HGNC:11990 TRAPPC2L gene TRAPPC2L Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30120216;32843486 False 2 0;100;0 1.63 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRIP13 gene TRIP13 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 28553959 False 2 0;100;0 1.63 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRPC5 gene TRPC5 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder, MONDO:0700092, TRPC5-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 36323681;24817631;23033978;33504798;28191890 False 2 0;100;0 1.63 True ENSG00000072315 ENSG00000072315 HGNC:12337 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomaly of kidney and urinary tract MONDO:0019719 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 27668656;34919690;36553458;39420202 False 2 0;100;0 1.63 True ENSG00000121297 ENSG00000121297 HGNC:30700 TSPAN7 gene TSPAN7 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 10449641;12070254;10655063;25081361 False 2 0;100;0 1.63 True ENSG00000156298 ENSG00000156298 HGNC:11854 TTL gene TTL Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 0;100;0 1.63 True ENSG00000114999 ENSG00000114999 HGNC:21586 TUBGCP4 gene TUBGCP4 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 25817018 False 2 0;100;0 1.63 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUFM gene TUFM Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4;OMIM #610678 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 26741492;17160893 False 2 0;100;0 1.63 True ENSG00000178952 ENSG00000178952 HGNC:12420 UPF1 gene UPF1 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental disorders Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 33057194 False 2 0;100;0 1.63 True ENSG00000005007 ENSG00000005007 HGNC:9962 UQCC2 gene UQCC2 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7;OMIM #615824 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PubMed: 28804536;24385928 False 2 0;100;0 1.63 True ENSG00000137288 ENSG00000137288 HGNC:21237 USP14 gene USP14 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38469793;35066879 False 2 0;100;0 1.63 True ENSG00000101557 ENSG00000101557 HGNC:12612 VPS37A gene VPS37A Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive;OMIM #614898 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 PMID: 22717650 False 2 0;100;0 1.63 True ENSG00000155975 ENSG00000155975 HGNC:24928 VPS51 gene VPS51 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 30624672;31207318 False 2 0;100;0 1.63 True ENSG00000149823 ENSG00000149823 HGNC:1172 WFS1 gene WFS1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, MIM# 222300;Wolfram-like syndrome, autosomal dominant, MIM# 614296 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 False 2 50;50;0 1.63 True ENSG00000109501 ENSG00000109501 HGNC:12762 YAP1 gene YAP1 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24462371 False 2 0;100;0 1.63 True ENSG00000137693 ENSG00000137693 HGNC:16262 YKT6 gene YKT6 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, YKT6-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 38522068 False 2 0;100;0 1.63 True ENSG00000106636 ENSG00000106636 HGNC:16959 ZBTB16 gene ZBTB16 Expert Review Amber;Genetic Health Queensland Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 18611983 False 2 0;100;0 1.63 True ENSG00000109906 ENSG00000109906 HGNC:12930 ZC3H14 gene ZC3H14 Expert list;Expert Review Amber Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 56;OMIM# 617125 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 21734151;33710394;28666327 False 2 0;100;0 1.63 True ENSG00000100722 ENSG00000100722 HGNC:20509 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 39313616 False 2 0;100;0 1.63 True ENSG00000171307 ENSG00000171307 HGNC:20714 ZNF407 gene ZNF407 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal SIMHA syndrome, MIM# 619557;Global developmental delay;Intellectual disability Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 24907849;32737394;23195952 False 2 0;100;0 1.63 True ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF668 gene ZNF668 Expert Review Amber;Literature Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 34313816;26633546 False 2 0;100;0 1.63 True ENSG00000167394 ENSG00000167394 HGNC:25821 FRA12A str DIP2B Expert Review Amber;Other Intellectual disability syndromic and non-syndromic Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, FRA12A type MIM#136630 Intellectual disability;HP:0001249; Neurodevelopmental delay;HP:0012758 17236128 False 2 0;100;0 1.63 True ENSG00000066084 ENSG00000066084 HGNC:29284 12 50898787 50898807 50505004 50505024 CGG 23 280