Congenital myasthenic syndrome 20

MONDO:0014939

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

Also known as: CMS20, SLC5A7 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in SLC5A7, congenital myasthenic syndrome type 20, myasthenic syndrome, congenital, 20, 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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