{"orpha":847,"name":"X-linked alpha-thalassemia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ATR-X syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-847/","orphanet_url":"https://www.orpha.net/en/disease/detail/847","names":{"fr":{"name":"Alpha-thalassémie-déficience intellectuelle liée à l'X","synonyms":["Syndrome ATR-X","Thalassémie alpha-déficience intellectuelle liée à l'X"],"definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par un retard de développement profond, une dysmorphie faciale, des anomalies génitales et une alpha-thalassémie."},"de":{"name":"Alpha-Thalassämie-X-chromosomale Intelligenzminderung-Syndrom","synonyms":["ATR-X-Syndrom"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch eine tiefgreifende Entwicklungsverzögerung, Gesichtsdysmorphien, genitale Anomalien und Alpha-Thalassämie gekennzeichnet ist."},"es":{"name":"Síndrome de alfa talasemia-discapacidad intelectual ligado al cromosoma X","synonyms":["Síndrome ATR-X"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por un profundo retraso del desarrollo, dismorfia facial, anomalías genitales y alfa-talasemia."},"it":{"name":"Sindrome alfa talassemia-disabilità cognitiva legata all'X","synonyms":["Sindrome ATR-X"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da grave ritardo dello sviluppo, dismorfismi facciali, anomalie dei genitali e alfa talassemia"},"nl":{"name":"X-gebonden alfa-thalassemie - intellectuele achterstand-syndroom","synonyms":["ATR-X-syndroom"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door zeer ernstige ontwikkelingsachterstand, faciale dysmorfie, genitale afwijkingen, en alfa-thalassemie."},"pt":{"name":"Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual ligada ao X","synonyms":["Síndrome ATR-X"],"definition":"Uma perturbação do desenvolvimento intelectual, rara, sindrómica ligada ao cromossoma X caracterizada por grave perturbação do desenvolvimento intelectual, dismorfia facial, anomalias genitais e alfa-talassemia."},"pl":{"name":"Zespół alfa-talasemii i niepełnosprawności intelektualnej sprzężony z chromosomem X","synonyms":["Zespół ATR-X"]},"cs":{"name":"Syndrom X-vázané alfa-thalasémie s mentální retardací","synonyms":["ATR-X syndrom"]},"uk":{"name":"Х-зчеплений синдром альфа-таласемії та інтелектуальної недостатності","synonyms":["Синдром ATR-X"],"definition":"A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia."},"zh":{"name":"X连锁α地中海贫血-智力障碍综合征","synonyms":["ATR-X 综合征"]},"tr":{"name":"Alfa-talasemi-X'e bağlı zihinsel yetersizlik sendromu","synonyms":["ATR-X sendromu"]}},"xrefs":[{"source":"OMIM","code":"301040","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"309580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1817564839"},{"source":"MONDO","code":"0010519","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5864","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":73220,"name":"X-linked intellectual disability-hypotonic face syndrome","status":"inactive"},{"type":"Moved to","orpha":93970,"name":"Holmes-Gang syndrome","status":"inactive"},{"type":"Moved to","orpha":93971,"name":"Chudley-Lowry-Hoar syndrome","status":"inactive"},{"type":"Moved to","orpha":93973,"name":"Carpenter-Waziri syndrome","status":"inactive"},{"type":"Moved to","orpha":93974,"name":"Smith-Fineman-Myers syndrome","status":"inactive"},{"type":"Referred to","orpha":263355,"name":"OBSOLETE: ATR-X-related syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":232288,"name":"Syndrome with alpha-thalassemia as a major feature","classifications":[156,194,233]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301622[PMID]","hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"20301622[PMID]_16722615[PMID]"},{"type":"Point prevalence","qualification":"Class 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