congenital myasthenic syndrome 19 (DOID:0110673)
Alliance: disease page
Synonyms: CMS19
Alt IDs: OMIM:616720
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.