{"orpha":652514,"name":"Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-652514/","orphanet_url":"https://www.orpha.net/en/disease/detail/652514","names":{"fr":{"name":"Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une mutation de MEIS2"},"de":{"name":"Gaumenspalte-kongenitaler Herzfehler-Intelligenzminderung-Syndrom durch MEIS2-Genmutation","synonyms":["Syndrom der Gaumenspalte mit angeborenem Herzfehler und Intelligenzminderung durch MEIS2-Genmutation"]},"es":{"name":"Síndrome de paladar hendido-defecto cardíaco congénito-discapacidad intelectual por mutación del gen MEIS2"},"it":{"name":"Sindrome palatoschisi-cardiopatia congenita-disabilità intellettiva da mutazione di MEIS2"},"nl":{"name":"Gespleten gehemelte - congenitaal hartdefect - intellectuele achterstand-syndroom door MEIS2-mutatie"},"pt":{"name":"Síndrome de fenda palatina-anomalia cardíaca congénita-perturbação do desenvolvimento intelectual por mutação em MEIS2"},"pl":{"name":"Zespół z rozszczepem podniebienia i niepełnosprawnością intelektualną spowodowany mutacją MEIS2"},"cs":{"name":"Syndrom zahrnující rozštěp patra, vrozenou srdeční vadu a mentální retardaci způsobený mutací MEIS2"},"uk":{"name":"Синдром розщілини піднебіння-вродженої вади серця-інтелектуальної недостатності, зумевлений мутацією MEIS2"}},"xrefs":[{"source":"OMIM","code":"600987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0958273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925117","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":652519,"name":"Cleft palate-congenital heart defect-intellectual disability syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MEIS2","name":"Meis homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30055086[PMID]","hgnc":"7001","ensembl":"ENSG00000134138","omim":"601740","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}