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Summary Literature (0)
DOID:0110673 - congenital myasthenic syndrome 19


Disease Ontology 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.

Synonyms: CMS19,

Xenbase Genes : col13a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014745 - congenital myasthenic syndrome 19


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital myasthenic syndrome (is_a)