{"orpha":85290,"name":"X-linked intellectual disability, Wilson type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85290/","orphanet_url":"https://www.orpha.net/en/disease/detail/85290","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Wilson","definition":"La déficience intellectuelle liée à l'X type Wilson se caractérise par une déficience intellectuelle sévère avec mutisme, une épilepsie, un retard de croissance et des infections à répétitions. Ce syndrome a été décrit chez trois hommes issus de trois générations d'une même famille. Le gène responsable de ce syndrome serait localisé en région 11p du chromosome X."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Wilson","definition":"Dieses Syndrom ist gekennzeichnet durch schwere Intelligenzminderung, Mutismus, zerebrale Krampfanfälle, Kleinwuchs und rezidivierende Infekte."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Wilson","definition":"Es un trastorno caracterizado por déficit intelectual grave con mutismo, epilepsia, retraso del crecimiento e infecciones recurrentes. Se ha descrito en tres varones de tres generaciones de una misma familia. El gen causal se ha localizado en la región 11p del cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Wilson"},"nl":{"name":"X-gebonden intellectuele achterstand, Wilson-type","definition":"Een aandoening, gekenmerkt door ernstige intellectuele achterstand met mutisme, epilepsie, groeiretardatie, en recidiverende infecties. Het werd beschreven bij drie mannen uit drie generaties van één familie. Het causale gen werd gelokaliseerd in de regio 11p van het X-chromosoom."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Wilson"},"pl":{"name":"Niepełnosprawność intelektualna typu Wilsona sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Wilsonův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Вільсона","definition":"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome."},"zh":{"name":"X连锁智力障碍，Wilson 型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Wilson tipi"}},"xrefs":[{"source":"OMIM","code":"309545","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":"0010658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305028","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1357179[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1357179[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-09","source":"1357179[PMID]","terms":[{"hpo":"HP:0010814","label":"Abnormal position of hair whorl","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000321","label":"Square face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}