{"orpha":404440,"name":"OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency","type":"Malformation syndrome","group":"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 Non-specific syndromic intellectual disability","url":"https://raremap.alftech.space/d/ORPHA-404440/","orphanet_url":"https://www.orpha.net/en/disease/detail/404440","names":{"fr":{"name":"OBSOLETE : Syndrome de déficience intellectuelle-dysmorphie faciale par haploinsuffisance de SETD5"},"de":{"name":"OBSOLET: Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch SETD5-Haploinsuffizienz"},"es":{"name":"OBSOLETO: Síndrome de discapacidad intelectual-dismorfia facial por haploinsuficiencia de SETD5"},"it":{"name":"OBSOLETO: Sindrome da disabilit intellettiva e dismorfismi facciali da aploinsufficienza di SETD5"},"nl":{"name":"OBSOLEET: Intellectuele achterstand - faciale dysmorfie-syndroom door SETD5-haploinsufficiëntie"},"pt":{"name":"OBSOLETO: Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial por haploinsuficiência de SETD5"},"pl":{"name":"NIEAKTUALNE: Zespół niepełnosprawność intelektualna-dysmorfia twarzy z powodu haploinsuficjencji SETD5"},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující mentální retardaci a faciální dysmorfismus, způsobený haploinsuficiencí SETD5"},"uk":{"name":"Синдром інтелектуальної недостатності-дисморфізму обличчя внаслідок гаплонедостатності SETD5","definition":"A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated."},"zh":{"name":"SETD5单倍剂量不足导致的智力障碍和面部畸形综合征","definition":"由SETD5单倍剂量不足引起的智力障碍-面部畸形综合征是一种罕见的综合症状性智力障碍，其特征是严重程度不同的质粒障碍，肌张力低下，进食困难，畸形，自闭症和行为障碍。发育迟缓，先天性心脏异常，胃肠道和泌尿生殖系统的畸形很少发生。"},"tr":{"name":"SETD5 haplo yetmezliğine bağlı zihinsel yetersizlik-yüz dismorfizm sendromu"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":528084,"name":"Non-specific syndromic intellectual disability"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}