{"orpha":231120,"name":"Beckwith-Wiedemann syndrome due to CDKN1C mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Beckwith-Wiedemann syndrome","url":"https://raremap.alftech.space/d/ORPHA-231120/","orphanet_url":"https://www.orpha.net/en/disease/detail/231120","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à une mutation de CDKN1C"},"de":{"name":"Beckwith-Wiedemann-Syndrom durch CDKN1C-Mangel"},"es":{"name":"Síndrome de Beckwith-Wiedemann por una mutación en el gen CDKN1C"},"it":{"name":"Sindrome di Beckwith-Wiedemann da deficit di CDKN1C"},"nl":{"name":"Syndroom van Beckwith-Wiedemann door CDKN1C-mutatie"},"pt":{"name":"Síndrome de Beckwith-Wiedemann por deficiência no gene CDKN1C"},"pl":{"name":"Zespół Beckwitha i Wiedemanna z powodu mutacji CDKN1C"},"cs":{"name":"Beckwithův-Wiedemannův syndrom způsobený mutací CDKN1C","synonyms":["Beckwith-Wiedemannův syndrom způsobený mutací CDKN1C"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений мутацією CDKN1C"},"zh":{"name":"CDKN1C基因突变所致Beckwith-Wiedemann综合征"},"tr":{"name":"CDKN1C mutasyonuna bağlı Beckwith-Wiedemann sendromu"}},"xrefs":[{"source":"OMIM","code":"130650","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":116,"name":"Beckwith-Wiedemann syndrome","classifications":[146,147,156,188,200,202,209,233]}],"children":[],"genes":[{"symbol":"CDKN1C","name":"cyclin dependent kinase inhibitor 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26077438[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"1786","ensembl":"ENSG00000129757","omim":"600856","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}