{"orpha":457260,"name":"X-linked intellectual disability-hypotonia-movement disorder syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457260/","orphanet_url":"https://www.orpha.net/en/disease/detail/457260","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-hypotonie-anomalie du mouvement","definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par une déficience intellectuelle légère à sévère associée à d'autres signes inconstants, à savoir hypotonie, dyskinésie, spasticité, démarche avec les jambes écartées, microcéphalie, épilepsie et troubles du comportement. L'IRM peut mettre en évidence une hypoplasie du corps calleux ou une hypertrophie ventriculaire. D'autres signes inconstants ont également été rapportés, à savoir hyperlaxité, anomalie de la pigmentation cutanée et troubles de la vision."},"de":{"name":"X-chromosomale Intelligenzminderung-Hypotonie-Bewegungsstörungen-Syndrom","definition":"Eine seltene, genetisch bedingte, syndromale intellektuelle Entwicklungsstörung, die durch eine leichte bis schwere intellektuelle Behinderung in Verbindung mit variablen Merkmalen gekennzeichnet ist, einschließlich Hypotonie, Dyskinesie, Spastizität, breitbasigem Gang, Mikrozephalie, Epilepsie und Verhaltensproblemen. Die MRT-Bildgebung kann eine Hypoplasie des Corpus callosum oder eine Ventrikelvergrößerung zeigen. Andere variable Merkmale, wie z. B. Gelenkhyperlaxität, Pigmentstörungen der Haut und Sehstörungen, wurden ebenfalls berichtet."},"es":{"name":"Síndrome de discapacidad intelectual-hipotonía-trastorno del movimiento ligado al cromosoma X","definition":"Es una discapacidad intelectual sindrómica de origen genético y poco frecuente caracterizada por una discapacidad intelectual de leve a grave asociada a alteraciones variables, que incluyen hipotonía, discinesia, espasticidad, marcha atáxica, microcefalia, epilepsia y trastornos de conducta. La RM puede revelar hipoplasia del cuerpo calloso o ventriculomegalia. También se han descrito otros hallazgos adicionales, tales como hiperlaxitud articular, alteraciones de la pigmentación cutánea y afectación visual."},"it":{"name":"Sindrome disabilità intellettiva-ipotonia-disturbi del movimento, legata all'X","definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da disabilità intellettiva da lieve a grave, associata a ipotonia, discinesia, spasticità, andatura a base allargata, microcefalia, epilessia e problemi comportamentali. La RMN evidenzia l'ipoplasia del corpo calloso o la dilatazione dei ventricoli. Può associarsi ad altri segni clinici variabili, che comprendono l'iperlassità articolare, le anomalie della pigmentazione della cute e la compromissione della vista."},"nl":{"name":"X-gebonden intellectuele achterstand - hypotonie - bewegingsstoornis-syndroom","definition":"Een zeldzame, genetische, syndromale intellectuele achterstand gekarakteriseerd door milde tot ernstige intellectuele achterstand, geassocieerd met variabele kenmerken, waaronder hypotonie, dyskinesie, spasticiteit, gang met brede basis, microcefalie, epilepsie en gedragsproblemen. Beeldvorming met MRI toont mogelijk hypoplasie van het corpus callosum of vergroting van de ventrikels. Andere variabele kenmerken, zoals hyperlaxiteit van de gewrichten, afwijkingen van de huidpigmentatie, en visuele stoornissen, werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de défice intelectual – hipotonia – doença do movimento, ligada ao cromossoma X"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, hipotonii i zaburzeń ruchu sprzężony z chromosomem X"},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci, hypotonii a poruchy hybnosti"},"uk":{"name":"Х-зчеплений синдром інтелектуальної недостатності-гіпотонії-рухових розладів","definition":"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported."},"zh":{"name":"X连锁-智力障碍-肌张力低下-运动障碍综合征","definition":"一种罕见的、遗传性的、综合征性的智力障碍，其特点是轻度到重度的智力障碍，并伴有不同的特征，包括肌张力低下、运动障碍、痉挛、宽基步态、小头症、癫痫和行为问题。MRI影像学检查可显示胼胝体发育不全或脑室扩大。其他不同的特征，如关节过度松弛、皮肤色素异常和视力障碍也有报道。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-hipotoni-hareket bozukluğu sendromu"}},"xrefs":[{"source":"OMIM","code":"300958","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F78.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018709","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DDX3X","name":"DEAD-box helicase 3 X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26235985[PMID]","hgnc":"2745","ensembl":"ENSG00000215301","omim":"300160","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"26235985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26235985[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"26235985[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}