{"orpha":728662,"name":"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome","Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome","ATOH1-related brainstem malformation syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-728662/","orphanet_url":"https://www.orpha.net/en/disease/detail/728662","names":{"fr":{"name":"Syndrome de surdité neurosensorielle-malformation du tronc cérébral-retard moteur-trouble de l'équilibre","synonyms":["Syndrome de surdité de perception-malformation du tronc cérébral-retard moteur-trouble de l'équilibre","Syndrome de malformation du tronc cérébral associé à ATOH1"]},"de":{"name":"Sensorineuraler Hörverlust-Hirnstammfehlbildung-motorische Entwicklungsverzögerung-Gleichgewichtsstörung-Syndrom","synonyms":["ATOH1-assoziiertes Hirnstammfehlbildungs-Syndrom","Sensorineurale Schwerhörigkeit-Hirnstammfehlbildung-motorische Entwicklungsverzögerung-Gleichgewichtsstörung-Syndrom"]},"es":{"name":"Síndrome de hipoacusia neurosensorial-malformación del tronco encefálico-retraso motor-alteración del equilibrio","synonyms":["Síndrome de malformación del tronco encefálico asociado al gen ATOH1","Síndrome de sordera neurosensorial-malformación del tronco encefálico-retraso motor-alteración del equilibrio"]},"it":{"name":"Sindrome perdita dell'udito neurosensoriale -malformazione del tronco encefalico-ritardo motorio-compromissione dell'equilibrio","synonyms":["Sindrome da malformazione del tronco encefalico correlata ad ATOH1","Sindrome sordità neurosensoriale-malformazione del tronco encefalico-ritardo motorio-compromissione dell'equilibrio","Sindrome compromissione dell'udito neurosensoriale-malformazione del tronco encefalico-ritardo motorio-alterazione dell'equilibrio"]},"nl":{"name":"Sensorineuraal gehoorverlies - malformatie van hersenstam - motorische achterstand - evenwichtsstoornis-syndroom","synonyms":["Sensorineurale doofheid - malformatie van hersenstam - motorische achterstand - evenwichtsstoornis-syndroom","ATOH1-gerelateerde malformatie van hersenstam-syndroom"]},"pt":{"name":"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome"},"pl":{"name":"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome","synonyms":["Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome","Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome","ATOH1-related brainstem malformation syndrome"]},"cs":{"name":"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome","synonyms":["Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome","Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome","ATOH1-related brainstem malformation syndrome"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":730696,"name":"Genetic syndrome with a brainstem malformation as a major feature","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":729519,"name":"Syndrome with a brainstem malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ATOH1","name":"atonal bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41592563[PMID]","hgnc":"797","ensembl":"ENSG00000172238","omim":"601461","loci":["4q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"41592563[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"41592563[PMID]_ORPHANET"}],"phenotypes":null}