{"orpha":85285,"name":"X-linked intellectual disability, Schimke type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85285/","orphanet_url":"https://www.orpha.net/en/disease/detail/85285","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Schimke","definition":"La déficience intellectuelle liée à l'X type Schimke se caractérise par une microcéphalie, un déficit intellectuel, un retard de croissance avec petite taille, une surdité et une ophtalmoplégie. Une choréoathétose associée à une spasticité musculaire apparaît également durant l'enfance. Ce syndrome de transmission liée à l'X a été décrit chez quatre garçons dont trois sont issus d'une même famille."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Schimke","definition":"Eine X-chromosomal-rezessiv vererbte syndromale Form der Intelligenzminderung, die durch Intelligenzdefizit, Wachstumsverzögerung mit Kleinwuchs, Taubheit und Ophthalmoplegie gekennzeichnet ist. Choreoathetose mit Muskelspastik tritt in der Regel im Kindesalter auf."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Schimke","definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por déficit intelectual, retraso del crecimiento con talla baja, sordera y oftalmoplejía. La coreoatetosis con espasticidad muscular suele manifestarse en la infancia."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Schimke"},"nl":{"name":"X-gebonden intellectuele achterstand, Schimke-type","definition":"Een aandoening, gekenmerkt door intellectuele achterstand, groeiretardatie met kleine gestalte, doofheid, en oftalmoplegie. Choreoathetose met spasticiteit van spieren treedt doorgaans op in de kindertijd. Het werd beschreven bij vier jongens, waarvan drie afkomstig uit eenzelfde familie. Transmissie gebeurt X-gebonden."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Schimke"},"pl":{"name":"Niepełnosprawność intelektualna typu Schimke sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Schimkeho typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Шимке","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood."},"zh":{"name":"X连锁智力障碍，Schimke型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Schimke tipi"}},"xrefs":[{"source":"OMIM","code":"312840","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":"0010729","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305027","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9288","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":4.0,"area":"Worldwide","status":"Validated","source":"6538752[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6538752[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-08","source":"6538752[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}