{"orpha":363958,"name":"17q21.31 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(17)(q21.31)","Monosomy 17q21.31"],"definition":null,"note":"This disease is described under Koolen-De Vries syndrome","url":"https://raremap.alftech.space/d/ORPHA-363958/","orphanet_url":"https://www.orpha.net/en/disease/detail/363958","names":{"fr":{"name":"Syndrome de microdélétion 17q21.31","synonyms":["Del(17)(q21.31)","Monosomie 17q21.31"]},"de":{"name":"Mikrodeletionssyndrom 17q21.31","synonyms":["Del(17)(q21.31)","Monosomie 17q21.31"]},"es":{"name":"Síndrome de microdeleción 17q21.31","synonyms":["Del(17)(q21.31)","Monosomía 17q21.31"]},"it":{"name":"Sindrome da microdelezione 17q21.31","synonyms":["Del(17)(q21.31)","Monosomia 17q21.31"]},"nl":{"name":"17q21.31-microdeletiesyndroom","synonyms":["Del(17)(q21.31)","Monosomie 17q21.31"]},"pt":{"name":"Síndrome de microdeleção 17q21.31"},"pl":{"name":"Zespół mikrodelecji 17q21.31","synonyms":["Del(17)(q21.31)","Monosomia 17q21.31"]},"cs":{"name":"Mikrodeleční syndrom 17q21.31","synonyms":["Del(17)(q21.31)","Monozomie 17q21.31"]},"uk":{"name":"Синдром мікроделеції 17q21.31","synonyms":["Del(17)(q21.31)","Моносомія 17q21.31"]},"zh":{"name":"17q21.31微缺失综合征","synonyms":["17q21.31单体"]},"tr":{"name":"17q21.31 mikrodelesyon sendromu","synonyms":["Del(17)(q21.31)","Monozomi 17q21.31"]}},"xrefs":[{"source":"OMIM","code":"610443","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1225666773"},{"source":"MONDO","code":"0018216","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864871","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]},{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"KANSL1","name":"KAT8 regulatory NSL complex subunit 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19447831[PMID]","hgnc":"24565","ensembl":"ENSG00000120071","omim":"612452","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.82,"area":"Europe","status":"Validated","source":"26306646[PMID]_[EXPERT]"}],"phenotypes":null}