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Metadata
ID	DOID:0110664
Name	congenital myasthenic syndrome 3C
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. https://www.ncbi.nlm.nih.gov/pubmed/16916845
Xrefs	OMIM:616323
Synonyms	congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease