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myasthenic syndrome, congenital, 22

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia.
Mondo Term and Equivalent IDs
MONDO:0044299:  myasthenic syndrome, congenital, 22
DOID:0080587: 
UMLS:C4479088: