{"orpha":329255,"name":"Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculocerebrofacial syndrome, Kaufman type","url":"https://raremap.alftech.space/d/ORPHA-329255/","orphanet_url":"https://www.orpha.net/en/disease/detail/329255","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle par déficit en UBE3B"},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom durch UBE3B-Mangel"},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual por deficiencia de UBE3B"},"it":{"name":"Sindrome blefarofimosi-deficit cognitivo, da deficit di UBE3B"},"nl":{"name":"Blefarofimose - intellectuele achterstandsyndroom door UBE3B-deficiëntie"},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual devida a défice de UBE3B"},"pl":{"name":"Zespół zwężenie szpary powiekowej - niepełnosprawność intelektualna spowodowany niedoborem UBE3B"},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální postižení, způsobený UBE3B deficitem"},"uk":{"name":"Блефарофімоз - синдром інтелектуальної недостатності, зумовлений дефіцитом UBE3B"},"zh":{"name":"UBE3B基因缺陷所致K睑裂狭小-智力障碍综合征"},"tr":{"name":"Blefarofimosis-UBE3B eksikliğine bağlı zihinsel yetersizlik sendromu"}},"xrefs":[],"associations":[{"type":"Moved to","orpha":2707,"name":"Oculocerebrofacial syndrome, Kaufman type"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}