Congenital myasthenic syndrome 21

MONDO:0014983

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.

Also known as: CMS21, SLC18A3 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in SLC18A3, congenital myasthenic syndrome type 21, myasthenic syndrome, congenital, 21, presynaptic

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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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