{"orpha":85320,"name":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Johnson syndrome"],"definition":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85320/","orphanet_url":"https://www.orpha.net/en/disease/detail/85320","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie","synonyms":["Syndrome de Johnson"],"definition":"Déficience intellectuelle syndromique liée à l'X, caractérisée par une déficience intellectuelle, une macrocéphalie, une macro-orchidie, une mâchoire et des sourcils proéminents, ainsi que par une malformation des oreilles. La maladie touche majoritairement les hommes, et certaines femmes ont une moins bonne fonction cognitive."},"de":{"name":"X-chromosomale Intelligenzminderung-Makrozephalie-Makroorchidie-Syndrom","synonyms":["Johnson-Syndrom"],"definition":"Eine X-chromosomal vererbte syndromale Form der Intelligenzminderung im männlichen und weiblichen Geschlecht, das durch Makrozephalie und, bei den meisten männlichen Patienten, durch Makroorchie gekennzeichnet ist. Es wurde in 1 Familie bei 12 Angehörigen aus 2 Generationen beschrieben. Einige normal intelligente Männer aus dieser Familie hatten ebenfalls eine Makroorchie und Makrozephalie. Das ursächliche Gen wurde in die Chromosomenregion Xq12-q21 kartiert."},"es":{"name":"Síndrome de discapacidad intelectual-macrocefalia-macroorquidia ligado al cromosoma X","synonyms":["Síndrome de Johnson"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por discapacidad intelectual, macrocefalia, macroorquidia, cejas y mandíbulas prominentes y anomalías del pabellón auricular. Afecta predominantemente a varones, mientras que algunas mujeres muestran capacidades cognitivas reducidas."},"it":{"name":"Sindrome da disabilità intellettiva legata all'X-macrocefalia-macroorchidismo","synonyms":["Sindrome di Johnson"],"definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da disabilità intellettiva, macrocefalia, macroorchidismo, prominenza delle sopracciglia e delle mascelle e anomalie delle orecchie. Colpisce per lo più i maschi; alcune femmine presentano deficit cognitivo."},"nl":{"name":"X-gebonden intellectuele achterstand - macrocefalie - macro-orchidisme-syndroom","synonyms":["Syndroom van Johnson","X-gebonden intellectuele achterstand - macrocefalie - macro-orchidie-syndroom"],"definition":"Een X-gebonden, syndromale intellectuele beperking die gekarakteriseerd wordt door intellectuele achterstand, macrocefalie, macro-orchidie, prominente wenkbrauwen en kaken, en abnormale oren. Vooral mannen worden getroffen, terwijl sommige vrouwen minder cognitieve vaardigheden vertonen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-macrocefalia-macro-orquidia ligada ao X","synonyms":["Síndrome Johnson"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - makrocefalia - makroorchidyzm","synonyms":["Zespół Johnsona"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, makrocefalii a makroorchidismus","synonyms":["Johnsonův syndrom"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-макроцефалії-макроорхідізму","synonyms":["Синдром Джонсона"],"definition":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities."},"zh":{"name":"X连锁智力障碍-大头畸形-大睾丸综合征","synonyms":["Johnson综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-makrosefali-makroorşidi sendromu","synonyms":["Johnson sendromu"]}},"xrefs":[{"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":"0019419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304406","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":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9863601[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"9863601[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9863601[PMID]","terms":[{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null}]}}