{"orpha":85273,"name":"X-linked intellectual disability, Abidi type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85273/","orphanet_url":"https://www.orpha.net/en/disease/detail/85273","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Abidi","definition":"La déficience intellectuelle liée à l'X type Abidi est caractérisée par un déficit intellectuel lié à l'X et par des manifestations variables peu marquées, incluant une petite taille, un petit périmètre crânien, un front fuyant, une perte d'audition, des oreilles malformées, et des petits testicules. Il a été décrit chez huit patients de sexe masculin appartenant à trois générations d'une même famille."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Abidi","definition":"Dieses Syndrom ist gekennzeichnet durch X-chromosomale Intelligenzminderung und eine Reihe von unterschiedlich, aber nicht schwer ausgeprägten Symptomen: Kleinwuchs, verringerter Kopfumfang, fliehende Stirn, Hörverlust, malformierte Ohren und kleine Testes."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Abidi","definition":"Es un trastorno caracterizado por un déficit intelectual ligado al cromosoma X y manifestaciones variables leves, que incluyen talla baja, perímetro cefálico pequeño, frente inclinada, hipoacusia, orejas con forma anómala y testículos pequeños. Se ha descrito en ocho varones de tres generaciones."},"it":{"name":"Ritardo mentale legato all'X, tipo Abidi"},"nl":{"name":"X-gebonden intellectuele achterstand, Abidi-type","definition":"X-gebonden intellectuele achterstand, Abidi-type wordt gekenmerkt door X-gebonden intellectuele achterstand en milde variabele manifestaties, waaronder kleine gestalte, kleine hoofdomtrek, hellend voorhoofd, gehoorverlies, abnormaal gevormde oren, en kleine testikels. Het werd beschreven bij acht getroffen mannen uit drie generaties."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Abidi"},"pl":{"name":"Niepełnosprawność intelektualna typu Abidi sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, typ Abidiové"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Абіді","definition":"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations."},"zh":{"name":"X连锁智力障碍，Abidi型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Abidi tipi"}},"xrefs":[{"source":"OMIM","code":"300262","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010285","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535556","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305021","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9157","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"10398233[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10398233[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}