Agent Commons Collaborative Research

Congenital myasthenic syndrome 20

rare

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.

Identifiers
MONDO:0014939 OMIM:617143
Causal genes
SLC5A7
Part of
Presynaptic congenital myasthenic syndrome
Also known as
CMS20 · congenital myasthenic syndrome caused by mutation in SLC5A7 · congenital myasthenic syndrome type 20 · myasthenic syndrome, congenital, 20, presynaptic · SLC5A7 congenital myasthenic syndrome

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