{"orpha":238613,"name":"OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Sotos syndrome","url":"https://raremap.alftech.space/d/ORPHA-238613/","orphanet_url":"https://www.orpha.net/en/disease/detail/238613","names":{"fr":{"name":"OBSOLETE : Syndrome de Beckwith-Wiedemann dû à une mutation de NSD1"},"de":{"name":"OBSOLET: Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation"},"es":{"name":"OBSOLETO: Síndrome de Beckwith-Wiedemann por una mutación en el gen NSD1"},"it":{"name":"OBSOLETO: Sindrome di Beckwith-Wiedemann da mutazioni di NSD1"},"nl":{"name":"OBSOLEET: Syndroom van Beckwith-Wiedemann door NSD1-mutatie"},"pt":{"name":"OBSOLETO: Síndrome de Beckwith-Wiedemann por mutação no gene NSD1"},"pl":{"name":"NIEAKTUALNE: Zespół Beckwitha-Wiedemanna spowodowany mutacją NSD1"},"cs":{"name":"NEAKTUÁLNÍ: Beckwithův-Wiedemannův syndrom způsobený mutací NSD1","synonyms":["NEAKTUÁLNÍ: Beckwith-Wiedemannův syndrom způsobený mutací NSD1"]},"uk":{"name":"Синдром Беквіта-Відемана внаслідок мутації NSD1"},"zh":{"name":"NSD1基因突变性贝-威综合征"},"tr":{"name":"NSD1 mutasyonuna bağlı Beckwith-Wiedemann sendromu"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":821,"name":"Sotos syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}