Agent Commons Collaborative Research

Congenital myasthenic syndrome 19

rare

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.

Identifiers
MONDO:0014745 OMIM:616720
Causal genes
COL13A1
Part of
Postsynaptic congenital myasthenic syndromePresynaptic congenital myasthenic syndrome
Also known as
CMS19 · COL13A1 congenital myasthenic syndrome · congenital myasthenic syndrome caused by mutation in COL13A1 · congenital myasthenic syndrome type 19 · myasthenic syndrome, congenital, 19

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