Congenital myasthenic syndrome 19

MONDO:0014745

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

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, myasthenic syndrome, congenital, type 19

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neuromuscular disease (106) Syndromic disease (25) Human disease (14) Hereditary neurological disease (6) Congenital myasthenic syndrome (5) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)

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