{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital myasthenic syndrome","url":"https://raremap.alftech.space/d/ORPHA-98913/","orphanet_url":"https://www.orpha.net/en/disease/detail/98913","names":{"fr":{"name":"Syndrome myasthénique congénital post-synaptique"},"de":{"name":"Postsynaptisches kongenitales myasthenes Syndrom"},"es":{"name":"Síndrome miasténico congénito postsináptico"},"it":{"name":"Sindrome miastenica congenita postsinaptica"},"nl":{"name":"Postsynaptisch congenitaal myastheen syndroom"},"pt":{"name":"Síndromes miasténicos, congénitos, pós-sinápticos"},"pl":{"name":"Wrodzone postsynaptyczne zespoły miasteniczne"},"cs":{"name":"Postsynaptické vrozené myastenické syndromy"},"uk":{"name":"Постсинаптичні вроджені міастенічні синдроми"},"zh":{"name":"突触后性先天性肌无力综合征"},"tr":{"name":"Postsinaptik doğumsal miyastenik 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neurologic disease"},"parents":[{"orpha":590,"name":"Congenital myasthenic syndrome","classifications":[147,156,181,189]},{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","classifications":[156,181]}],"children":[{"orpha":716881,"name":"Congenital myasthenic syndrome due to a sodium channel 1.4 defect","type":"Etiological subtype"},{"orpha":719880,"name":"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect","type":"Etiological subtype"},{"orpha":719914,"name":"Congenital myasthenic syndrome due to defective nuclear membrane protein","type":"Etiological subtype"},{"orpha":716825,"name":"Congenital myasthenic syndrome due to defects in endplate development and maintenance","type":"Etiological subtype"},{"orpha":716742,"name":"Congenital myasthenic syndrome with kinetic defect","type":"Etiological subtype"},{"orpha":716816,"name":"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-01","source":"6287911[PMID]","terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001446","label":"Abnormality of the musculature of the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003402","label":"Decreased miniature endplate potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003443","label":"Decreased size of nerve terminals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve 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kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Occasional (29-5%)","criteria":null}]}}