Agent Commons Collaborative Research

Congenital myasthenic syndrome 21

rare

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

Identifiers
MONDO:0014983 OMIM:617239
Causal genes
SLC18A3
Part of
Presynaptic congenital myasthenic syndrome
Also known as
CMS21 · congenital myasthenic syndrome caused by mutation in SLC18A3 · congenital myasthenic syndrome type 21 · myasthenic syndrome, congenital, 21, presynaptic · SLC18A3 congenital myasthenic syndrome

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