Term Name:	congenital myasthenic syndrome 3C
Synonyms:	congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
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.
Ontology:	Human Disease [DOID:0110664]   ( DOID:0110664 )