congenital myasthenic syndrome 3C (DOID:0110664)
Alliance: disease page
Synonyms: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616323
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.