{"orpha":85324,"name":"X-linked intellectual disability, Shrimpton type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MRXS9"],"definition":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85324/","orphanet_url":"https://www.orpha.net/en/disease/detail/85324","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Shrimpton","synonyms":["MRXS9"],"definition":"Déficience intellectuelle syndromique liée à l'X caractérisée par une déficience intellectuelle sévère, une microcéphalie et une petite taille chez les patients de sexe masculin. Un strabisme et une diplégie spastique ont également été décrits."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Shrimpton","synonyms":["MRXS9"],"definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch schwere intellektuelle Beeinträchtigung, Mikrozephalie und Kleinwuchs bei männlichen Patienten gekennzeichnet ist. Schielen und spastische Diplegie sind ebenfalls beschrieben worden."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Shrimpton","synonyms":["MRXS9"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por una discapacidad intelectual grave, microcefalia y talla baja en los pacientes varones. También se han descrito estrabismo y diplejía espástica."},"it":{"name":"Disabilità intellettiva legata all'X tipo Shrimpton","synonyms":["MRXS9"],"definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da disabilità intellettiva grave, microcefalia e bassa statura nei maschi. Può associarsi a strabismo e diplegia spastica."},"nl":{"name":"X-gebonden intellectuele achterstand, Shrimpton-type","synonyms":["MRXS9"],"definition":"Een X-gebonden syndromale intellectuele beperking die gekarakteriseerd wordt door ernstige intellectuele achterstand, microcefalie en kleine gestalte bij mannelijke patiënten. Strabisme en spastische diplegie werden ook reeds beschreven."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Shrimpton","synonyms":["MRXS9"]},"pl":{"name":"Niepełnosprawność intelektualna typu Shrimpton sprzężona z chromosomem X","synonyms":["MRXS9"]},"cs":{"name":"X-vázaná mentální retardace, Shrimptonův typ","synonyms":["MRXS9"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Шрімптона","synonyms":["MRXS9"],"definition":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described."},"zh":{"name":"X连锁智力障碍，Shrimpton型","synonyms":["MRXS9"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Shrimpton tipi","synonyms":["MRXS9"]}},"xrefs":[{"source":"OMIM","code":"300709","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":"0010409","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678039","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":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"10331611[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10331611[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10331611[PMID]","terms":[{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","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:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null}]}}