{"orpha":85338,"name":"X-linked intellectual disability-ataxia-apraxia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85338/","orphanet_url":"https://www.orpha.net/en/disease/detail/85338","names":{"fr":{"name":"Syndrome d'ataxie-apraxie-déficience intellectuelle lié à l'X","definition":"Déficience intellectuelle liée à l'X syndromique rare qui se caractérise par une ataxie non progressive, une apraxie, une déficience intellectuelle variable et/ou des dysfonctionnements visuospatiaux, visuographiques et visuoconstructifs chez les patients de sexe masculin. Des convulsions, un pied bot congénital et une macroorchidie y sont parfois associés. Des manifestations cliniques partielles ont été observées chez les femmes porteuses. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"X-chromosomale Intelligenzminderung-Ataxie-Apraxie-Syndrom","definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung, die durch nicht-progrediente Ataxie, Apraxie, variable Intelligenzminderung und/oder visuospatiale, visuographische und visuokonstruktive Störungen bei männlichen Patienten gekennzeichnet ist. Krampfanfälle, kongenitaler Klumpfuß und Makroorchismus wurden ebenfalls in Verbindung gebracht. Bei weiblichen Anlageträgern wurde eine partielle klinische Manifestation beobachtet. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-ataxia-apraxia ligado al cromosoma X","definition":"Es un trastorno sindrómico poco frecuente de discapacidad intelectual ligado al cromosoma X, caracterizado por ataxia no progresiva, apraxia, discapacidad intelectual variable y/o disfunción visuoespacial, visuográfica y visuoconstructiva en los pacientes varones. También se han asociado crisis epilépticas, pie zambo congénito y macroorquidia. Se ha descrito una expresión clínica parcial en las mujeres portadoras. No ha habido más casos descritos en la literatura desde 1992."},"it":{"name":"Sindrome disabilità intellettiva-atassia-aprassia legata all'X","definition":"Si tratta di una malattia rara da disabilità intellettiva sindromica legata all'X, caratterizzata da atassia non progressiva, aprassia, disabilità intellettiva di gravità variabile e/o disfunzione visuo-spaziale, visuo-grafica e visuo-costruttiva nei maschi. Può associarsi a crisi epilettiche, piede torto congenito e macroorchidismo. Le femmine portatrici obbligate presentano un'espressione clinica parziale. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"X-gebonden intellectuele achterstand - ataxie - apraxie-syndroom","definition":"Een zeldzame, X-gebonden, syndromale aandoening met intellectuele achterstand, gekarakteriseerd door niet-progressieve ataxie, apraxie, variabele intellectuele achterstand, en/of visuospatiële, visuografische en visuoconstructieve disfuncties bij mannelijke patiënten. Insulten, congenitale klompvoet en macro-orchidie werden ook geassocieerd. Bij obligate vrouwelijke dragers werd partiële klinische expressie waargenomen. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-ataxia-apraxia ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - ataksja - apraksja"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, ataxii a apraxii"},"uk":{"name":"Синдром Х-зчепленої розумової відсталостї-атаксії-апраксії","definition":"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992."},"zh":{"name":"X连锁智力障碍-共济失调-失用症"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-ataksi-apraksi sendromu"}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"902960779"},{"source":"MONDO","code":"0019430","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305139","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]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"1605232[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1605232[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"1605232[PMID]","terms":[{"hpo":"HP:0002186","label":"Apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null}]}}