{"orpha":716825,"name":"Congenital myasthenic syndrome due to defects in endplate development and maintenance","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Defect in endplate development and maintenance"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716825/","orphanet_url":"https://www.orpha.net/en/disease/detail/716825","names":{"fr":{"name":"Syndrome myasthénique congénital dus à une annomalie du maintien et développement de la plaque motrice"},"de":{"name":"Kongenitales myasthenes Syndrom durch Defekt der postsynaptischen Endplatte","synonyms":["Kongenitales Myastheniesyndrom durch Defekte in der Endplattenentwicklung und -erhaltung"]},"es":{"name":"Síndrome miasténico congénito por defectos del desarrollo y mantenimiento de la placa terminal","synonyms":["Defecto en el desarrollo y mantenimiento de la placa terminal"]},"it":{"name":"Sindrome miastenica congenita da difetti nello sviluppo e nel mantenimento della placca terminale","synonyms":["Difetti nello sviluppo e nel mantenimento della placca terminale","Difetto dello sviluppo e del mantenimento della placca terminale"]},"nl":{"name":"Congenitaal myastheen syndroom door defecten van ontwikkeling en onderhoud van eindplaat","synonyms":["Defect van ontwikkeling en onderhoud van eindplaat","CMS door defecten van ontwikkeling en onderhoud van eindplaat"]},"pt":{"name":"Congenital myasthenic syndromes due to defects in endplate development and maintenance"},"pl":{"name":"Wrodzone zespoły miasteniczne spowodowane defektami rozwoju i utrzymania płytki granicznej","synonyms":["Defect in endplate development and maintenance"]},"cs":{"name":"Congenital myasthenic syndrome due to defects in endplate development and maintenance","synonyms":["Defect in endplate development and maintenance"]}},"xrefs":[{"source":"OMIM","code":"254300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616304","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616325","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"AGRN","name":"agrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22205389[PMID]_19631309[PMID]_20301347[PMID]","hgnc":"329","ensembl":"ENSG00000188157","omim":"103320","loci":["1p36.33"]},{"symbol":"DOK7","name":"docking protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"26594","ensembl":"ENSG00000175920","omim":"610285","loci":["4p16.3"]},{"symbol":"LRP4","name":"LDL receptor related protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24234652[PMID]","hgnc":"6696","ensembl":"ENSG00000134569","omim":"604270","loci":["11p11.2"]},{"symbol":"MUSK","name":"muscle associated receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"7525","ensembl":"ENSG00000030304","omim":"601296","loci":["9q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}