{"orpha":85274,"name":"Ahmad syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Intellectual developmental disorder, X-linked, syndromic 7","MRXS7","X-linked intellectual disability, Ahmad type"],"definition":"A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85274/","orphanet_url":"https://www.orpha.net/en/disease/detail/85274","names":{"fr":{"name":"Syndrome d'Ahmad","synonyms":["Déficience intellectuelle liée à l'X type Ahmad","MRXS7"],"definition":"Déficience intellectuelle liée à l'X syndromique rare caractérisée par une déficience intellectuelle légère à modérée, une obésité, un hypogonadisme, des doigts effilés, un micropénis et des testicules petits ou non descendus, le gène en cause étant localisé en Xp11.3-Xq23. Elle se manifeste par ailleurs, de manière inconstante, par une alopécie, des anomalies dentaires et visuelles, des troubles du langage et une diminution de la force musculaire."},"de":{"name":"Ahmad-Syndrom","synonyms":["Intelligenzminderung, X-chromosomale, Typ Ahmad","Intelligenzminderung, X-chromosomale, syndromale Typ 7","MRXS7"],"definition":"Eine seltene, X-chromosomale syndromale Störung der intellektuellen Entwicklung, die durch leichte bis mittelschwere geistige Behinderung, Adipositas, Hypogonadismus, spitze Finger und Mikrophallus mit kleinen oder nicht herabgestiegenen Hoden gekennzeichnet ist. Das ursächliche Gen wurde in der Chromosomenregion Xp11.3-Xq23 kartiert. Weitere varible Manifestationen sind Alopezie, Zahn- und Sehanomalien, Sprachstörungen und verminderte Körperkraft."},"es":{"name":"Síndrome de Ahmad","synonyms":["Trastorno del desarrollo intelectual, ligado al cromosoma X, sindrómico 7","Discapacidad intelectual ligada al cromosoma X tipo Ahmad","MRXS7"],"definition":"Es un trastorno sindrómico poco frecuente de discapacidad intelectual ligado al cromosoma X localizado en la región Xp11.3-Xq23. Está caracterizado por discapacidad intelectual de leve a moderada, obesidad, hipogonadismo, dedos de las manos afilados y microfalo con testículos pequeños o no descendidos., Otras manifestaciones variables adicionales incluyen alopecia, anomalías dentales y visuales, trastornos del habla y disminución de la fuerza corporal."},"it":{"name":"Sindrome di Ahmad","synonyms":["MRXS7","Malattia dello sviluppo intellettivo, legata all'X, sindromica 7","Disabilità intellettiva legata all'X, tipo Ahmad","Disabilità intellettiva legata all'X, tipo Ahmad"],"definition":"Si tratta di una malattia rara da disabilità intellettiva sindromica legata all'X, caratterizzata da disabilità intellettiva lieve-moderata, obesità, ipogonadismo, dita affusolate e micropene con testicoli ipoplastici o criptorchidismo. Il gene malattia mappa su Xp11.3-Xq23. Altri segni clinici variabili sono l'alopecia, le anomalie dei denti e della vista, i difetti del linguaggio e la scarsa forza fisica."},"nl":{"name":"Syndroom van Ahmad","synonyms":["MRXS7","X-gebonden intellectuele achterstand, Ahmad-type","Intellectuele ontwikkelingsstoornis, X-gebonden, syndromaal 7"],"definition":"Een zeldzame, X-gebonden, syndromale intellectuele achterstand gekarakteriseerd door milde tot matige intellectuele achterstand, obesitas, hypogonadisme, spitse vingers en micropenis met kleine of niet-ingedaalde teelballen, gelokaliseerd op Xp11.3-Xq23. Bijkomende variabele manifestaties zijn onder meer alopecie, anomalieën van het gebit en het gezichtsvermogen, spraakstoornissen, en verminderde lichaamskracht."},"pt":{"name":"Perturbação do desenvolvimento intelectual sindromática ligada ao X 7","synonyms":["MRXS7","Perturbação do desenvolvimento intelectual ligada ao X, tipo Ahmad"]},"pl":{"name":"Syndromiczna niepełnosprawność intelektualna 7 sprzężona z chromosomem X","synonyms":["MRXS7","Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Ahmada"]},"cs":{"name":"Syndromická X-vázaná mentální retardace 7","synonyms":["MRXS7","X-vázaná mentální retardace, Ahmadův typ"]},"uk":{"name":"Синдромна Х-зчеплена розумова відсталість 7","synonyms":["MRXS7","Х-зчеплена розумова відсталість, тип Ахмад"],"definition":"A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength."},"zh":{"name":"综合征性X连锁智力障碍7型","synonyms":["X连锁智力障碍，Ahmad型"]},"tr":{"name":"Sendromik X'e bağlı zihinsel yetersizlik 7","synonyms":["MRXS7","X'e bağlı zihinsel yetersizlik, Ahmad tipi"]}},"xrefs":[{"source":"OMIM","code":"300218","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":"0010270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846170","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9156","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":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"10573017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10573017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10573017[PMID]","terms":[{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}