{"orpha":659975,"name":"Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Neurodevelopmental disorder with hearing loss and spastic quadriplegia","Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome","Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-659975/","orphanet_url":"https://www.orpha.net/en/disease/detail/659975","names":{"fr":{"name":"Syndrome de surdité neurosensorielle-quadriplégie spastique-déficience intellectuelle","synonyms":["Syndrome de surdité neurosensorielle-tétraplégie spastique-déficience intellectuelle"]},"de":{"name":"Schallempfindungsschwerhörigkeit-spastische Tetraplegie-Intelligenzminderung-Syndrom","synonyms":["Neurologische Entwicklungsstörung mit Hörverlust und Spastik","Neurologische Entwicklungsstörung mit Hörverlust und spastischer Tetraplegie"]},"es":{"name":"Síndrome de hipoacusia neurosensorial-cuadriplejía espástica-discapacidad intelectual","synonyms":["Síndrome de sordera neurosensorial-cuadriplejía espástica-discapacidad intelectual","Trastorno del neurodesarrollo con hipoacusia y cuadriplejia espástica"]},"it":{"name":"Sindrome sordità neurosensoriale-quadriplegia spastica-disabilità intellettiva","synonyms":["Malattia del neurosviluppo con sordità e quadriplegia spastica"]},"nl":{"name":"Sensorineuraal gehoorverlies - spastische quadriplegie - intellectuele achterstand-syndroom","synonyms":["Neurologische ontwikkelingsstoornis met gehoorverlies en spastische quadriplegie","Sensorineurale doofheid - spastische quadriplegie - intellectuele achterstand-syndroom"]},"pt":{"name":"Síndrome de perda auditiva neurossensorial-quadriplegia espástica-perturbação do desenvolvimento intelectual","synonyms":["Doença do neurodesenvolvimento com perda auditiva e quadriplegia espástica","Síndrome de surdez neurossensorial-quadriplegia espástica-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół ze zmysłowo-nerwowym niedosłuchem, spastycznym porażeniem czterokończynowym i niepełnosprawnością intelektualną","synonyms":["Neurodevelopmental disorder with hearing loss and spastic quadriplegia","Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome","Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome"]},"cs":{"name":"Syndrom zahrnující senzorineurální ztrátu sluchu, spastickou kvadruplegii a mentální retardaci","synonyms":["Neurodevelopmental disorder with hearing loss and spastic quadriplegia","Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome","Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome"]},"uk":{"name":"Синдром сенсоневральної приглухуватості-спастичної квадриплегії-інтелектуальної недостатності","synonyms":["Порушення нейророзвитку з втратою слуху та спастичною квадриплегією","Синдром сенсоневральної глухоти-спастичної квадриплегії- інтелектуальної недостатності","Синдром сенсоневральної приглухуватості - спастичної тетраплегії - інтелектуальної недостатності"]}},"xrefs":[{"source":"OMIM","code":"619616","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H91.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859206","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859206","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925134","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"AFG2B","name":"AAA ATPase AFG2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34626583[PMID]","hgnc":"28762","ensembl":"ENSG00000171763","omim":"619578","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"34626583[PMID]_34626583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34626583[PMID]_34626583[PMID]_ORPHANET"}],"phenotypes":null}