{"orpha":369939,"name":"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"],"definition":"A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369939/","orphanet_url":"https://www.orpha.net/en/disease/detail/369939","names":{"fr":{"name":"Syndrome de déficiences motrice et intellectuelle sévères-surdité neurosensorielle-dystonie","definition":"Maladie neurologique rare d'origine génétique caractérisée par un retard de croissance intra-utérin, un retard de croissance staturo-pondérale, une surdité neurosensorielle apparaissant dès l'enfance, un retard de développement global sévère ou une absence de développement psychomoteur, une paraplégie ou une quadriplégie accompagnée de dystonie et de signes d'atteinte pyramidale, une microcéphalie, des anomalies oculaires (strabisme, atrophie optique), une légère dysmorphie (yeux enfoncés dans les orbites, pont nasal proéminent, micrognathie), des crises convulsives et des anomalies de la morphologie cérébrale (hypomyélinisation de la substance blanche, atrophie cérébrale)."},"de":{"name":"Schwere motorische und intellektuelle Beeinträchtigung-sensorinsorineurale Schwerhörigkeit-Dystonie-Syndrom"},"es":{"name":"Síndrome de discapacidad motora e intelectual grave-sordera neurosensorial-distonía","synonyms":["Síndrome de discapacidad motora e intelectual grave-hipoacusia neurosensorial-distonía"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por retraso del crecimiento intrauterino, fallo de medro, sordera neurosensorial de inicio en la lactancia, grave retraso global del desarrollo o ausencia de desarrollo psicomotor, paraparesia o cuadriplejia con distonia y signos piramidales, microcefalia, anomalías oculares (estrabismo, atrofia óptica), rasgos dismórficos leves (ojos hundidos, puente nasal prominente, micrognatia), crisis epilépticas y anomalías de la morfología cerebral (hipomielinización de la sustancia blanca, atrofia cerebral)."},"it":{"name":"Sindrome da disabilità motoria ed intellettiva grave, sordità neurosensoriale e distonia","definition":"La sindrome che associa disabilità motoria ed intellettiva grave, sordità neurosensoriale e distonia è una malattia neurologica genetica rara, caratterizzata da ritardo della crescita pre- e postnatale, sordità neurosensoriale ad esordio neonatale, grave ritardo dello sviluppo globale o mancato sviluppo psicomotorio, paraplegia o quadriplegia con distonia e segni piramidali, microcefalia, anomalie oculari (strabismo, atrofia ottica), dismorfismi sfumati (occhi infossati, sella nasale prominente, micrognazia), crisi epilettiche ed anomalie morfologiche del cervello (alterazioni ipomielinizzanti della sostanza bianca, atrofia cerebrale)."},"nl":{"name":"Ernstige motorische en intellectuele achterstand - sensorineurale doofheid - dystonie-syndroom","synonyms":["Ernstige motorische en intellectuele achterstand - sensorineuraal gehoorverlies - dystonie-syndroom"],"definition":"Een zeldzame, genetische, neurologische aandoening, gekarakteriseerd door intra-uteriene groeiretardatie, groeifalen, infantiele aanvang van sensorineurale doofheid, ernstige algehele ontwikkelingsachterstand of afwezige psychomotorische ontwikkeling, paraplegie of quadriplegie met dystonie en piramidale tekenen, microcefalie, oogafwijkingen (strabisme, opticusatrofie), milde dysmorfe kenmerken (diepliggende ogen, prominente neusbrug, micrognathie), insulten en afwijkende morfologie van de hersenen (hypomyeliniserende veranderingen van witte stof, cerebrale atrofie)."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual e motor grave-surdez neurossensorial-distonia"},"pl":{"name":"Zespół ciężka niepełnosprawność ruchowa i intelektualna-głuchota czuciowo-nerowa-dystonia","synonyms":["Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"]},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, poruchu motoriky, senzorineurální hluchotu a dystonii","synonyms":["Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"]},"uk":{"name":"Синдром тяжких рухових та інтелектуальних порушень-сенсоневральної глухоти-дистонії","synonyms":["Синдром тяжких рухових та інтелектуальних порушень- сенсоневральної туговухості - дистонії"],"definition":"A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."},"zh":{"name":"重型运动及智力障碍-感音神经性聋-肌张力障碍综合征","synonyms":["严重运动和智力障碍-感音神经性听力损失-肌张力障碍综合征"],"definition":"本病是一种罕见的遗传性神经系统疾病，其特征是子宫内生长迟缓，无法发育，婴儿出现感音神经性耳聋，严重的整体发育迟缓或缺乏精神运动发育，截瘫或四肢瘫痪并伴有肌张力障碍和锥体束征，小头畸形，眼部异常（斜视，视神经萎缩），轻度的畸形特征（眼睛深陷，突出的鼻梁，微棘皮症），癫痫发作和脑部形态异常（髓鞘白质改变，脑萎缩）。"},"tr":{"name":"Ağır motor ve zihinsel yetersizlik-sensörinöral sağırlık-distoni sendromu","synonyms":["Ağır motor ve zihinsel yetersizlik-sensörinöral işitme kayıp-distoni sendromu"]}},"xrefs":[{"source":"OMIM","code":"300475","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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]},{"orpha":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"BCAP31","name":"B cell receptor associated protein 31","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24011989[PMID]","hgnc":"16695","ensembl":"ENSG00000185825","omim":"300398","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24011989[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-29","source":"24011989[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}