{"orpha":716772,"name":"Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS with kinetic defect due to reduced ion channel conductance"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716772/","orphanet_url":"https://www.orpha.net/en/disease/detail/716772","names":{"fr":{"name":"Syndrome myasthénique congénital avec défaut cinétique dû à une conductance réduite de canal ionique"},"de":{"name":"Kongenitales myasthenes Syndrom mit kinetischem Defekt durch verminderte Ionenkanalleitfähigkeit","synonyms":["CMS mit kinetischem Defekt aufgrund einer verminderten Ionenkanalleitfähigkeit"]},"es":{"name":"Síndrome miasténico congénito con defecto cinético por baja conductancia del canal iónico","synonyms":["SMC con defecto cinético por baja conductancia del canal iónico"]},"it":{"name":"Sindrome miastenica congenita con difetto cinetico da riduzione della conduttanza del canale ionico","synonyms":["CMS con difetto cinetico da riduzione della conduttanza del canale ionico"]},"nl":{"name":"Congenitaal myastheen syndroom met kinetisch defect door verminderde geleiding van ionkanaal","synonyms":["CMS met kinetisch defect door verminderde geleiding van ionkanaal"]},"pt":{"name":"Congenital myasthenic syndromes with kinetic defect due to reduced ion channel conductance"},"pl":{"name":"Wrodzone zespoły miasteniczne z defektem kinetycznym spowodowanym zmniejszonym przewodnictwem kanałów jonowych","synonyms":["CMS with kinetic defect due to reduced ion channel conductance"]},"cs":{"name":"Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance","synonyms":["CMS with kinetic defect due to reduced ion channel conductance"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":716742,"name":"Congenital myasthenic syndrome with kinetic defect","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"CHRNE","name":"cholinergic receptor nicotinic epsilon subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22382357[PMID]","hgnc":"1966","ensembl":"ENSG00000108556","omim":"100725","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}