{"orpha":436151,"name":"Intellectual disability-expressive aphasia-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-loss of expressive language-facial dysmorphism syndrome","SETBP1 haploinsufficiency disorder","SETBP1-HD"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-436151/","orphanet_url":"https://www.orpha.net/en/disease/detail/436151","names":{"fr":{"name":"Syndrome de déficience intellectuelle-aphasie expressive-dysmorphie faciale","synonyms":["Syndrome de déficience intellectuelle-perte du langage verbal acquis-dysmorphie faciale","Trouble d'haploinsuffisance lié à SETBP1"]},"de":{"name":"Intelligenzminderung-expressive Aphasie-Gesichtsdysmorphien-Syndrom","synonyms":["Syndromale Intelligenzminderung mit Verlust der expressiven Sprache und Gesichtsdysmorphien"]},"es":{"name":"Síndrome de discapacidad intelectual-afasia expresiva-dismorfia facial","synonyms":["SETBP1-HD","Síndrome de discapacidad intelectual-pérdida del lenguaje expresivo-dismorfia facial","Trastorno por haploinsuficiencia del gen SETBP1"]},"it":{"name":"Sindrome disabilità intellettiva-afasia espressiva-dismorfismi facciali","synonyms":["Sindrome disabilità intellettiva-perdita del linguaggio espressivo-dismorfismi facciali","Malattia da aploinsufficienza di SETBP1","SETBP1-HD"]},"nl":{"name":"Intellectuele achterstand - expressieve afasie - faciale dysmorfie-syndroom","synonyms":["Intellectuele achterstand - verlies van expressieve taal - faciale dysmorfie-syndroom","SETBP1-HD","SETBP1-haploinsufficiëntie"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-afasia de expressão-dismorfia facial","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-perda de linguagem expressiva-dismorfia facial"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej, afazji ekspresyjnej i dysmorfii twarzy","synonyms":["Zespół niepełnosprawności intelektualnej, utraty języka ekspresywnego i dysmorfii twarzy"]},"cs":{"name":"Syndrom zahrnující intelektovou nedostatečnost, expresivní afázii a faciální dysmorfii","synonyms":["Syndrom zahrnující intelektovou nedostatečnost, ztrátu vyjadřovacích schopností a faciální dysmorfii"]},"uk":{"name":"Синдром інтелектуальної недостатності-вираженої афазії-дисморфізму обличчя","synonyms":["Синдром інтелектуальної недостатності - втрати експресивної мови - лицьового дисморфізму"],"definition":"A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures."},"zh":{"name":"智力障碍-表达性失语-面部畸形综合征","synonyms":["智力障碍-语言表达障碍-面部畸形综合征"],"definition":"一种罕见的遗传型综合征性智力障碍，特征是中度至重度智力缺陷，语言缺陷（完全缺乏或严重受损的言语）以及独特的面部畸形（长脸，眉毛直立，以及耳位低和牛奶咖啡斑）。可以观察到的其他特征包括运动延迟，行为困难和癫痫发作。"},"tr":{"name":"Zihinsel yetersizlik- ifade edici afazi-yüz dismorfizm sendromu","synonyms":["Zihinsel yetersizlik-ifade edici dil kaybı-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"616078","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0018574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":211053,"name":"Specific language disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"SETBP1","name":"SET binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"38923504[PMID]_33867525[PMID]","hgnc":"15573","ensembl":"ENSG00000152217","omim":"611060","loci":["18q12.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}