{"orpha":598164,"name":"FOXG1 syndrome due to intragenic alteration","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under FOXG1 syndrome","url":"https://raremap.alftech.space/d/ORPHA-598164/","orphanet_url":"https://www.orpha.net/en/disease/detail/598164","names":{"fr":{"name":"Syndrome FOXG1 dû à une altération intragénique"},"de":{"name":"FOXG1-Syndrom durch intragenische Veränderung"},"es":{"name":"Síndrome FOXG1 por alteración intragénica"},"it":{"name":"Sindrome FOXG1 da alterazione intragenica"},"nl":{"name":"FOXG1-syndroom door intragenische verandering"},"pt":{"name":"Síndrome FOXG1 por modificação intragénica"},"pl":{"name":"Zespół FOXG1 z powodu wewnatrzgenowej zmiany"},"cs":{"name":"Syndrom FOXG1 způsobený intragenovou změnou"},"uk":{"name":"Синдром FOXG1, зумовлений внутрішньогенними змінами"},"zh":{"name":"FOXG1 syndrome due to intragenic alteration"},"tr":{"name":"FOXG1 syndrome due to intragenic alteration"}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035713","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681589","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":561854,"name":"FOXG1 syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FOXG1","name":"forkhead box G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31454984[PMID]","hgnc":"3811","ensembl":"ENSG00000176165","omim":"164874","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}