{"orpha":716889,"name":"Congenital myasthenic syndrome due to defective axonal transport","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Myosin 9a deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716889/","orphanet_url":"https://www.orpha.net/en/disease/detail/716889","names":{"fr":{"name":"Syndrome myasthénique congénital par défaut de transport axonal"},"de":{"name":"Kongenitales myasthenes Syndrom durch Störung des axonalen Transports","synonyms":["Myosin 9a-Defizienz"]},"es":{"name":"Síndrome miasténico congénito por defectos del transporte axonal","synonyms":["Deficiencia de miosina 9a"]},"it":{"name":"Sindrome miastenica congenita dovuta a un difetto nel trasporto assonale","synonyms":["Deficit di miosina 9a"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van axonaal transport","synonyms":["Deficiëntie van myosine 9a","CMS door defect van axonaal transport"]},"pt":{"name":"Congenital myasthenic syndromes due to defective axonal transport"},"pl":{"name":"Wrodzone zespoły miasteniczne spowodowane defektem transportu aksonalnego","synonyms":["Myosin 9a deficiency"]},"cs":{"name":"Congenital myasthenic syndrome due to defective axonal transport","synonyms":["Myosin 9a deficiency"]}},"xrefs":[{"source":"OMIM","code":"618198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"MYO9A","name":"myosin IXA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27259756[PMID]","hgnc":"7608","ensembl":"ENSG00000066933","omim":"604875","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}