{"orpha":363965,"name":"Koolen-De Vries syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Koolen-De Vries syndrome","url":"https://raremap.alftech.space/d/ORPHA-363965/","orphanet_url":"https://www.orpha.net/en/disease/detail/363965","names":{"fr":{"name":"Syndrome de Koolen-De Vries dû à une mutation ponctuelle"},"de":{"name":"Koolen-De Vries-Syndrom durch Punktmutation"},"es":{"name":"Síndrome de Koolen-De Vries por una mutación puntual"},"it":{"name":"Sindrome di Koolen-De Vries da mutazione puntiforme"},"nl":{"name":"Syndroom van Koolen-De Vries door puntmutatie"},"pt":{"name":"Síndrome Koolen-De-Vries por uma mutação pontual"},"pl":{"name":"Zespół Koolena i De Vries spowodowany mutacją punktową"},"cs":{"name":"Koolenův-De Vriesův syndrom způsobený bodovými mutacemi","synonyms":["Koolen-De Vriesův syndrom způsobený bodovými mutacemi"]},"uk":{"name":"Синдром Кулена-Де Вріса, зумовлений точковою мутацією"},"zh":{"name":"点突变所致Koolen-De Vries综合征"},"tr":{"name":"Nokta mutasyonu kaynaklı Koolen-De Vries sendromu"}},"xrefs":[{"source":"OMIM","code":"610443","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":96169,"name":"Koolen-De Vries syndrome","classifications":[147,156,181,199]}],"children":[],"genes":[{"symbol":"KANSL1","name":"KAT8 regulatory NSL complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22544363[PMID]_22544367[PMID]_20301783[PMID]","hgnc":"24565","ensembl":"ENSG00000120071","omim":"612452","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22544363[PMID]_22544367[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}