{"orpha":716917,"name":"Congenital myasthenic syndrome with mitochondrial defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS with mitochondrial defect"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716917/","orphanet_url":"https://www.orpha.net/en/disease/detail/716917","names":{"fr":{"name":"Syndrome myasthénique congénital par défaut mitochondrial","synonyms":["SMC par défaut mitochondrial"]},"de":{"name":"Kongenitales Myastheniesyndrom mit mitochondrialem Defekt","synonyms":["CMS mit Mitochondriendefekt"]},"es":{"name":"Síndrome miasténico congénito con defectos mitocondriales","synonyms":["SMC con defectos mitocondriales"]},"it":{"name":"Sindrome miastenica congenita con difetto mitocondriale","synonyms":["SMC con difetto mitocondriale","CMS con difetto mitocondriale"]},"nl":{"name":"Congenitaal myastheen syndroom met mitochondriaal defect","synonyms":["CMS met mitochondriaal defect"]},"pt":{"name":"Congenital myasthenic syndromes with mitochondrial defect"},"pl":{"name":"Wrodzone zespoły miasteniczne z defektem mitochondrialnym","synonyms":["CMS with mitochondrial defect"]},"cs":{"name":"Congenital myasthenic syndrome with mitochondrial defect","synonyms":["CMS with mitochondrial defect"]}},"xrefs":[{"source":"OMIM","code":"618197","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620451","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":716913,"name":"Congenital myasthenic syndrome associated with ubiquitously expressed proteins","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"SLC25A1","name":"solute carrier family 25 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10979","ensembl":"ENSG00000100075","omim":"190315","loci":["22q11.21"]},{"symbol":"TEFM","name":"transcription elongation factor, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37239850[PMID]_36823193[PMID]","hgnc":"26223","ensembl":"ENSG00000172171","omim":"616422","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}