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Metadata
ID	DOID:0110673
Name	congenital myasthenic syndrome 19
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/26626625
Xrefs	MIM:616720
Synonyms	CMS19 [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease