{"orpha":101685,"name":"Rare non-syndromic intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rare NSID"],"definition":"Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101685/","orphanet_url":"https://www.orpha.net/en/disease/detail/101685","names":{"fr":{"name":"Déficience intellectuelle non syndromique rare","synonyms":["NSID rare"],"definition":"Maladie neurologique héréditaire rare caractérisée par des troubles cognitifs précoces comme seul handicap. Elle peut s'accompagner d'autisme, d'épilepsie et de déficits neuromusculaires."},"de":{"name":"Seltene nicht-syndromale Intelligenzminderung","synonyms":["Seltene NSID"],"definition":"Die Seltene nicht-syndromalen Intelligenzminderung ist eine seltene, erbliche, neurologische Erkrankung, die als einziges Merkmal eine früh einsetzende kognitive Beeinträchtigung aufweist. Die Krankheit kann mit Autismus, Epilepsie und neuromuskulären Defiziten einhergehen."},"es":{"name":"Discapacidad intelectual rara no sindrómica","definition":"Es una enfermedad neurológica hereditaria y poco frecuente caracterizada por deterioro cognitivo de inicio temprano como única discapacidad. La enfermedad puede estar asociada a autismo, epilepsia y deficiencias neuromusculares."},"it":{"name":"Disabilità intellettiva rara non sindromica","synonyms":["NSID rara"],"definition":"La disabilità intellettiva rara non sindromica è una malattia neurologica ereditaria rara, caratterizzata unicamente dal deficit cognitivo ad esordio precoce. La malattia può associarsi all'autismo, all'epilessia e a deficit neuromuscolari."},"nl":{"name":"Zeldzame niet-syndromale intellectuele achterstand","synonyms":["Zeldzame NSID"],"definition":"Zeldzame niet-syndromale intellectuele achterstand is een zeldzame, erfelijke, neurologische ziekte die gekarakteriseerd wordt door vroeg aanvangende cognitieve beperking als enige invaliditeit. De ziekte kan geassocieerd zijn met autisme, epilepsie en neuromusculaire gebreken."},"pt":{"name":"Perturbação do desenvolvimento intelectual não-sindromática rara","synonyms":["NSID rara"]},"pl":{"name":"Rzadka niesyndromiczna niepełnosprawność intelektualna","synonyms":["Niesyndromiczna rzadka niepełnosprawność umysłowa"],"definition":"*Rzadka niesyndromiczna niepełnosprawność intelektualna jest dziedziczną chorobą neurologiczną, która charakteryzuje się wczesnym upośledzeniem funkcji poznawczych jako jedyną niepełnosprawnością. Może towarzyszyć autyzm, padaczka i deficyty nerwowo-mięśniowe."},"cs":{"name":"Vzácná mentální retardace bez vývojové anomálie","synonyms":["Vzácný nesyndromický intelektuální deficit"]},"uk":{"name":"Рідкісна несиндромна інтелектуальна недостатність","synonyms":["Рідкісний NSID"],"definition":"Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits."},"zh":{"name":"罕见非综合征性智力障碍","synonyms":["罕见NSID"],"definition":"罕见的非综合征性智力残疾是一种罕见的遗传性神经系统疾病，其特征是以早发性认知障碍为唯一残疾。这种疾病可能与自闭症、癫痫和神经肌肉缺陷有关。"},"tr":{"name":"Nadir sendromik olmayan zihinsel yetersizlik","synonyms":["Nadir NSID"]}},"xrefs":[{"source":"ICD-10","code":"F70","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"F71","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"F72","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"F73","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19783","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":183757,"name":"Rare genetic intellectual disability","classifications":[156]},{"orpha":87277,"name":"Rare intellectual disability","classifications":[181]}],"children":[{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability","type":"Etiological subtype"},{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability","type":"Etiological subtype"},{"orpha":777,"name":"X-linked non-syndromic intellectual disability","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"KDM5B","name":"lysine demethylase 5B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24307393[PMID]","hgnc":"18039","ensembl":"ENSG00000117139","omim":"605393","loci":["1q32.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"MED12","name":"mediator complex subunit 12","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"11957","ensembl":"ENSG00000184634","omim":"300188","loci":["Xq13.1"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"PTCHD1","name":"patched domain containing 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20844286[PMID]_21091464[PMID]","hgnc":"26392","ensembl":"ENSG00000165186","omim":"300828","loci":["Xp22.11"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"AIMP1","name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26173967[PMID]","hgnc":"10648","ensembl":"ENSG00000164022","omim":"603605","loci":["4q24"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"ALKBH8","name":"alkB homolog 8, tRNA methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31079898[PMID]","hgnc":"25189","ensembl":"ENSG00000137760","omim":"613306","loci":["11q22.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"BRSK2","name":"BR serine/threonine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30879638[PMID]","hgnc":"11405","ensembl":"ENSG00000174672","omim":"609236","loci":["11p15.5"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CIC","name":"capicua transcriptional repressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28288114[PMID]","hgnc":"14214","ensembl":"ENSG00000079432","omim":"612082","loci":["19q13.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CLIP1","name":"CAP-Gly domain containing linker protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24569606[PMID]","hgnc":"10461","ensembl":"ENSG00000130779","omim":"179838","loci":["12q24.31"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CSNK2B","name":"casein kinase 2 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28585349[PMID]","hgnc":"2460","ensembl":"ENSG00000204435","omim":"115441","loci":["6p21.33"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"EZR","name":"ezrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25504542[PMID]","hgnc":"12691","ensembl":"ENSG00000092820","omim":"123900","loci":["6q25.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"FBXO31","name":"F-box protein 31","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24623383[PMID]","hgnc":"16510","ensembl":"ENSG00000103264","omim":"609102","loci":["16q24.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"FTSJ1","name":"FtsJ RNA 2'-O-methyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18081026[PMID]","hgnc":"13254","ensembl":"ENSG00000068438","omim":"300499","loci":["Xp11.23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"GEMIN5","name":"gem nuclear organelle associated protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33963192[PMID]","hgnc":"20043","ensembl":"ENSG00000082516","omim":"607005","loci":["5q33.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"GRIK2","name":"glutamate ionotropic receptor kainate type subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17847003[PMID]","hgnc":"4580","ensembl":"ENSG00000164418","omim":"138244","loci":["6q16.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"HIVEP2","name":"HIVEP zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26153216[PMID]_27003583[PMID]","hgnc":"4921","ensembl":"ENSG00000010818","omim":"143054","loci":["6q24.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"IMPA1","name":"inositol monophosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26416544[PMID]","hgnc":"6050","ensembl":"ENSG00000133731","omim":"602064","loci":["8q21.13"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"MBOAT7","name":"membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27616480[PMID]","hgnc":"15505","ensembl":"ENSG00000125505","omim":"606048","loci":["19q13.42"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"NAA20","name":"N-alpha-acetyltransferase 20, NatB catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34230638[PMID]","hgnc":"15908","ensembl":"ENSG00000173418","omim":"610833","loci":["20p11.23"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"PGAP1","name":"post-GPI attachment to proteins inositol deacylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24784135[PMID]","hgnc":"25712","ensembl":"ENSG00000197121","omim":"611655","loci":["2q33.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"RAB39B","name":"RAB39B, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20159109[PMID]","hgnc":"16499","ensembl":"ENSG00000155961","omim":"300774","loci":["Xq28"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"TAOK1","name":"TAO kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31230721[PMID]","hgnc":"29259","ensembl":"ENSG00000160551","omim":"610266","loci":["17q11.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"TNIK","name":"TRAF2 and NCK interacting kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27106596[PMID]","hgnc":"30765","ensembl":"ENSG00000154310","omim":"610005","loci":["3q26.2-q26.31"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"TRAPPC9","name":"trafficking protein particle complex subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20004765[PMID]_20004763[PMID]_20004765[PMID]","hgnc":"30832","ensembl":"ENSG00000167632","omim":"611966","loci":["8q24.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"TTC5","name":"tetratricopeptide repeat domain 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32439809[PMID]","hgnc":"19274","ensembl":"ENSG00000136319","omim":"619014","loci":["14q11.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"UBE4A","name":"ubiquitination factor E4A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33420346[PMID]","hgnc":"12499","ensembl":"ENSG00000110344","omim":"603753","loci":["11q23.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"USP9X","name":"ubiquitin specific peptidase 9 X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24607389[PMID]","hgnc":"12632","ensembl":"ENSG00000124486","omim":"300072","loci":["Xp11.4"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ABCA2","name":"ATP binding cassette subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29302074[PMID]","hgnc":"32","ensembl":"ENSG00000107331","omim":"600047","loci":["9q34.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"ACSL4","name":"acyl-CoA synthetase long chain family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11889465[PMID]","hgnc":"3571","ensembl":"ENSG00000068366","omim":"300157","loci":["Xq23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"AGTR2","name":"angiotensin II receptor type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14598163[PMID]","hgnc":"338","ensembl":"ENSG00000180772","omim":"300034","loci":["Xq23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ALG13","name":"ALG13 UDP-N-acetylglucosaminyltransferase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24501762[PMID]","hgnc":"30881","ensembl":"ENSG00000101901","omim":"300776","loci":["Xq23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ARF3","name":"ARF GTPase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34346499[PMID]","hgnc":"654","ensembl":"ENSG00000134287","omim":"103190","loci":["12q13.12"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"ARHGEF6","name":"Rac/Cdc42 guanine nucleotide exchange factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11017088[PMID]","hgnc":"685","ensembl":"ENSG00000129675","omim":"300267","loci":["Xq26.3"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15850492[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ASH1L","name":"ASH1 like histone lysine methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23033978[PMID]_28394464[PMID]","hgnc":"19088","ensembl":"ENSG00000116539","omim":"607999","loci":["1q22"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"B3GALNT2","name":"beta-1,3-N-acetylgalactosaminyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29273094[PMID]","hgnc":"28596","ensembl":"ENSG00000162885","omim":"610194","loci":["1q42.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CACNA1I","name":"calcium voltage-gated channel subunit alpha1 I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33704440[PMID]","hgnc":"1396","ensembl":"ENSG00000100346","omim":"608230","loci":["22q13.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CACNG2","name":"calcium voltage-gated channel auxiliary subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21376300[PMID]","hgnc":"1406","ensembl":"ENSG00000166862","omim":"602911","loci":["22q12.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CAMK2A","name":"calcium/calmodulin dependent protein kinase II alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100089[PMID]","hgnc":"1460","ensembl":"ENSG00000070808","omim":"114078","loci":["5q32"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CAMK2B","name":"calcium/calmodulin dependent protein kinase II beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100089[PMID]","hgnc":"1461","ensembl":"ENSG00000058404","omim":"607707","loci":["7p13"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CASK","name":"calcium/calmodulin dependent serine protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25886057[PMID]_24278995[PMID]","hgnc":"1497","ensembl":"ENSG00000147044","omim":"300172","loci":["Xp11.4"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"CC2D1A","name":"coiled-coil and C2 domain containing 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16033914[PMID]","hgnc":"30237","ensembl":"ENSG00000132024","omim":"610055","loci":["19p13.12"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CDH15","name":"cadherin 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19012874[PMID]","hgnc":"1754","ensembl":"ENSG00000129910","omim":"114019","loci":["16q24.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CEP104","name":"centrosomal protein 104","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35359234[PMID]","hgnc":"24866","ensembl":"ENSG00000116198","omim":"616690","loci":["1p36.32"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CHKA","name":"choline kinase alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35202461[PMID]","hgnc":"1937","ensembl":"ENSG00000110721","omim":"118491","loci":["11q13.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CLCN4","name":"Cl-/H+ antiporter 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25644381[PMID]","hgnc":"2022","ensembl":"ENSG00000073464","omim":"302910","loci":["Xp22.2"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"CLTC","name":"clathrin heavy chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"2092","ensembl":"ENSG00000141367","omim":"118955","loci":["17q23.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CNKSR2","name":"connector enhancer of kinase suppressor of Ras 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25644381[PMID]","hgnc":"19701","ensembl":"ENSG00000149970","omim":"300724","loci":["Xp22.12"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"CRADD","name":"CARD and death domain containing adaptor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22279524[PMID]","hgnc":"2340","ensembl":"ENSG00000169372","omim":"603454","loci":["12q22"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CRBN","name":"cereblon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15557513[PMID]","hgnc":"30185","ensembl":"ENSG00000113851","omim":"609262","loci":["3p26.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"CTNND2","name":"catenin delta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33718894[PMID]","hgnc":"2516","ensembl":"ENSG00000169862","omim":"604275","loci":["5p15.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"CUX1","name":"cut like homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30014507[PMID]","hgnc":"2557","ensembl":"ENSG00000257923","omim":"116896","loci":["7q22.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"DCPS","name":"decapping enzyme, scavenger","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25701870[PMID]","hgnc":"29812","ensembl":"ENSG00000110063","omim":"610534","loci":["11q24.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"DLG3","name":"discs large MAGUK scaffold protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15185169[PMID]","hgnc":"2902","ensembl":"ENSG00000082458","omim":"300189","loci":["Xq13.1"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"DLL1","name":"delta like canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31353024[PMID]","hgnc":"2908","ensembl":"ENSG00000198719","omim":"606582","loci":["6q27"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"DMD","name":"dystrophin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23900271[PMID]","hgnc":"2928","ensembl":"ENSG00000198947","omim":"300377","loci":["Xp21.2-p21.1"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"DOCK8","name":"dedicator of cytokinesis 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18060736[PMID]","hgnc":"19191","ensembl":"ENSG00000107099","omim":"611432","loci":["9p24.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"DPYSL2","name":"dihydropyrimidinase like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35861646[PMID]","hgnc":"3014","ensembl":"ENSG00000092964","omim":"602463","loci":["8p21.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"DYNC1H1","name":"dynein cytoplasmic 1 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22368300[PMID]","hgnc":"2961","ensembl":"ENSG00000197102","omim":"600112","loci":["14q32.31"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"EDC3","name":"enhancer of mRNA decapping 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25701870[PMID]","hgnc":"26114","ensembl":"ENSG00000179151","omim":"609842","loci":["15q24.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"EEF1B2","name":"eukaryotic translation elongation factor 1 beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35015920[PMID]","hgnc":"3208","ensembl":"ENSG00000114942","omim":"600655","loci":["2q33.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"EPB41L1","name":"erythrocyte membrane protein band 4.1 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21376300[PMID]","hgnc":"3378","ensembl":"ENSG00000088367","omim":"602879","loci":["20q11.23"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"ERBB4","name":"erb-b2 receptor tyrosine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33603162[PMID]","hgnc":"3432","ensembl":"ENSG00000178568","omim":"600543","loci":["2q34"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"FERRY3","name":"FERRY endosomal RAB5 effector complex subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27311568[PMID]","hgnc":"1184","ensembl":"ENSG00000047621","omim":"616082","loci":["12p13.32"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"FMN2","name":"formin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25480035[PMID]","hgnc":"14074","ensembl":"ENSG00000155816","omim":"606373","loci":["1q43"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"FRMPD4","name":"FERM and PDZ domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25644381[PMID]","hgnc":"29007","ensembl":"ENSG00000169933","omim":"300838","loci":["Xp22.2"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"FRRS1L","name":"ferric chelate reductase 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28675162[PMID]","hgnc":"1362","ensembl":"ENSG00000260230","omim":"604574","loci":["9q31.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"GABBR1","name":"gamma-aminobutyric acid type B receptor subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36103875[PMID]","hgnc":"4070","ensembl":"ENSG00000204681","omim":"603540","loci":["6p22.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"GDI1","name":"GDP dissociation inhibitor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22002931[PMID]","hgnc":"4226","ensembl":"ENSG00000203879","omim":"300104","loci":["Xq28"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"GRIA1","name":"glutamate ionotropic receptor AMPA type subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35675825[PMID]","hgnc":"4571","ensembl":"ENSG00000155511","omim":"138248","loci":["5q33.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"GRIA1","name":"glutamate ionotropic receptor AMPA type subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28628100[PMID]","hgnc":"4571","ensembl":"ENSG00000155511","omim":"138248","loci":["5q33.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"GRIN1","name":"glutamate ionotropic receptor NMDA type subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28051072[PMID]","hgnc":"4584","ensembl":"ENSG00000176884","omim":"138249","loci":["9q34.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"GRIN1","name":"glutamate ionotropic receptor NMDA type subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21376300[PMID]","hgnc":"4584","ensembl":"ENSG00000176884","omim":"138249","loci":["9q34.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"GRM7","name":"glutamate metabotropic receptor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27435318[PMID]","hgnc":"4599","ensembl":"ENSG00000196277","omim":"604101","loci":["3p26.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"HCFC1","name":"host cell factor C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23000143[PMID]","hgnc":"4839","ensembl":"ENSG00000172534","omim":"300019","loci":["Xq28"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"HNMT","name":"histamine N-methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26206890[PMID]","hgnc":"5028","ensembl":"ENSG00000150540","omim":"605238","loci":["2q22.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"IL1RAPL1","name":"interleukin 1 receptor accessory protein like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16470793[PMID]_19012350[PMID]","hgnc":"5996","ensembl":"ENSG00000169306","omim":"300206","loci":["Xp21.3-p21.2"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"IQSEC1","name":"IQ motif and Sec7 domain ArfGEF 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31607425[PMID]","hgnc":"29112","ensembl":"ENSG00000144711","omim":"610166","loci":["3p25.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"ITSN1","name":"intersectin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34707297[PMID]","hgnc":"6183","ensembl":"ENSG00000205726","omim":"602442","loci":["21q22.11"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"KCNQ2","name":"potassium voltage-gated channel subfamily Q member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33754465[PMID]","hgnc":"6296","ensembl":"ENSG00000075043","omim":"602235","loci":["20q13.33"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"KCNQ5","name":"potassium voltage-gated channel subfamily Q member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28669405[PMID]","hgnc":"6299","ensembl":"ENSG00000185760","omim":"607357","loci":["6q13"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"KDM5B","name":"lysine demethylase 5B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29276005[PMID]","hgnc":"18039","ensembl":"ENSG00000117139","omim":"605393","loci":["1q32.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"KIRREL3","name":"kirre like nephrin family adhesion molecule 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19012874[PMID]","hgnc":"23204","ensembl":"ENSG00000149571","omim":"607761","loci":["11q24.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"LINS1","name":"lines homolog 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23773660[PMID]","hgnc":"30922","ensembl":"ENSG00000140471","omim":"610350","loci":["15q26.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"LMAN2L","name":"lectin, mannose binding 2 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26566883[PMID]","hgnc":"19263","ensembl":"ENSG00000114988","omim":"609552","loci":["2q11.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"MAN1B1","name":"mannosidase alpha class 1B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21763484[PMID]","hgnc":"6823","ensembl":"ENSG00000177239","omim":"604346","loci":["9q34.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"MBD5","name":"methyl-CpG binding domain protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23422940[PMID]","hgnc":"20444","ensembl":"ENSG00000204406","omim":"611472","loci":["2q23.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"MECP2","name":"methyl-CpG binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11309367[PMID]","hgnc":"6990","ensembl":"ENSG00000169057","omim":"300005","loci":["Xq28"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"MED23","name":"mediator complex subunit 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21868677[PMID]","hgnc":"2372","ensembl":"ENSG00000112282","omim":"605042","loci":["6q23.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"MED25","name":"mediator complex subunit 25","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25527630[PMID]","hgnc":"28845","ensembl":"ENSG00000104973","omim":"610197","loci":["19q13.33"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"METTL23","name":"methyltransferase 23, arginine","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24626631[PMID]","hgnc":"26988","ensembl":"ENSG00000181038","omim":"615262","loci":["17q25.2"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"MID2","name":"midline 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24115387[PMID]","hgnc":"7096","ensembl":"ENSG00000080561","omim":"300204","loci":["Xq22.3"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"NBEA","name":"neurobeachin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30269351[PMID]","hgnc":"7648","ensembl":"ENSG00000172915","omim":"604889","loci":["13q13.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"NCDN","name":"neurochondrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33711248[PMID]","hgnc":"17597","ensembl":"ENSG00000020129","omim":"608458","loci":["1p34.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"NDST1","name":"N-deacetylase and N-sulfotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25125150[PMID]","hgnc":"7680","ensembl":"ENSG00000070614","omim":"600853","loci":["5q33.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"NEMF","name":"nuclear export mediator factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32934225[PMID]","hgnc":"10663","ensembl":"ENSG00000165525","omim":"608378","loci":["14q21.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"NSUN2","name":"NOP2/Sun RNA methyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22541559[PMID]_22541562[PMID]","hgnc":"25994","ensembl":"ENSG00000037474","omim":"610916","loci":["5p15.31"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"PIGC","name":"phosphatidylinositol glycan anchor biosynthesis class C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27694521[PMID]","hgnc":"8960","ensembl":"ENSG00000135845","omim":"601730","loci":["1q24.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"PRICKLE2","name":"prickle planar cell polarity protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34092786[PMID]","hgnc":"20340","ensembl":"ENSG00000163637","omim":"608501","loci":["3p14.1"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"PRSS12","name":"serine protease 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12459588[PMID]","hgnc":"9477","ensembl":"ENSG00000164099","omim":"606709","loci":["4q26"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"RAB11A","name":"RAB11A, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"9760","ensembl":"ENSG00000103769","omim":"605570","loci":["15q22.31"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"RPS6KA3","name":"ribosomal protein S6 kinase A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17100996[PMID]","hgnc":"10432","ensembl":"ENSG00000177189","omim":"300075","loci":["Xp22.12"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"RSRC1","name":"arginine and serine rich coiled-coil 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28640246[PMID]_29522154[PMID]","hgnc":"24152","ensembl":"ENSG00000174891","omim":"613352","loci":["3q25.32"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"SARS1","name":"seryl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28236339[PMID]","hgnc":"10537","ensembl":"ENSG00000031698","omim":"607529","loci":["1p13.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"SCN2A","name":"sodium voltage-gated channel alpha subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31904126[PMID]_38651838[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SCN8A","name":"sodium voltage-gated channel alpha subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16236810[PMID]","hgnc":"10596","ensembl":"ENSG00000196876","omim":"600702","loci":["12q13.13"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SEMA6B","name":"semaphorin 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35604360[PMID]","hgnc":"10739","ensembl":"ENSG00000167680","omim":"608873","loci":["19p13.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SET","name":"SET nuclear proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29688601[PMID]","hgnc":"10760","ensembl":"ENSG00000119335","omim":"600960","loci":["9q34.11"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SETD1B","name":"SET domain containing 1B, histone lysine methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32546566[PMID]","hgnc":"29187","ensembl":"ENSG00000139718","omim":"611055","loci":["12q24.31"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SLC45A1","name":"solute carrier family 45 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28434495[PMID]","hgnc":"17939","ensembl":"ENSG00000162426","omim":"605763","loci":["1p36.23"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"SLC6A1","name":"solute carrier family 6 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34006619[PMID]","hgnc":"11042","ensembl":"ENSG00000157103","omim":"137165","loci":["3p25.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"SLC9A7","name":"solute carrier family 9 member A7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30335141[PMID]","hgnc":"17123","ensembl":"ENSG00000065923","omim":"300368","loci":["Xp11.3"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"STEEP1","name":"STING1 ER exit protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29374277[PMID]","hgnc":"26239","ensembl":"ENSG00000018610","omim":"301012","loci":["Xq24"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"SYP","name":"synaptophysin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19377476[PMID]","hgnc":"11506","ensembl":"ENSG00000102003","omim":"313475","loci":["Xp11.23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"TCF4","name":"transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22670824[PMID]","hgnc":"11634","ensembl":"ENSG00000196628","omim":"602272","loci":["18q21.2"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"TECR","name":"trans-2,3-enoyl-CoA reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21212097[PMID]","hgnc":"4551","ensembl":"ENSG00000099797","omim":"610057","loci":["19p13.12"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"TPR","name":"translocated promoter region, nuclear basket protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34494102[PMID]","hgnc":"12017","ensembl":"ENSG00000047410","omim":"189940","loci":["1q31.1"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"TRPM3","name":"transient receptor potential cation channel subfamily M member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31278393[PMID]","hgnc":"17992","ensembl":"ENSG00000083067","omim":"608961","loci":["9q21.12-q21.13"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"TSPAN7","name":"tetraspanin 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10655063[PMID]_12070254[PMID]","hgnc":"11854","ensembl":"ENSG00000156298","omim":"300096","loci":["Xp11.4"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"TUSC3","name":"tumor suppressor candidate 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21739581[PMID]","hgnc":"30242","ensembl":"ENSG00000104723","omim":"601385","loci":["8p22"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"UPF3B","name":"UPF3B regulator of nonsense mediated mRNA decay","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17704778[PMID]_19238151[PMID]","hgnc":"20439","ensembl":"ENSG00000125351","omim":"300298","loci":["Xq24"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"USP27X","name":"ubiquitin specific peptidase 27 X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25644381[PMID]","hgnc":"13486","ensembl":"ENSG00000273820","omim":"300975","loci":["Xp11.23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"WASHC4","name":"WASH complex subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21498477[PMID]","hgnc":"29174","ensembl":"ENSG00000136051","omim":"615748","loci":["12q23.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"YWHAZ","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36001342[PMID]","hgnc":"12855","ensembl":"ENSG00000164924","omim":"601288","loci":["8q22.3"],"via":{"orpha":178469,"name":"Autosomal dominant non-syndromic intellectual disability"}},{"symbol":"ZC3H14","name":"zinc finger CCCH-type containing 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21734151[PMID]","hgnc":"20509","ensembl":"ENSG00000100722","omim":"613279","loci":["14q31.3"],"via":{"orpha":88616,"name":"Autosomal recessive non-syndromic intellectual disability"}},{"symbol":"ZNF711","name":"ZFX family zinc finger ZNF711","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19377476[PMID]","hgnc":"13128","ensembl":"ENSG00000147180","omim":"314990","loci":["Xq21.1"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}},{"symbol":"ZNF81","name":"zinc finger protein 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15121780[PMID]","hgnc":"13156","ensembl":"ENSG00000197779","omim":"314998","loci":["Xp11.23"],"via":{"orpha":777,"name":"X-linked non-syndromic intellectual disability"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant","X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}