Term Name:	congenital myasthenic syndrome 19
Synonyms:	CMS19
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.
Ontology:	Human Disease [DOID:0110673]   ( DOID:0110673 )