Congenital myasthenic syndrome 18

MONDO:0014590

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.

Also known as: CMS18, SNAP25 congenital myasthenic syndrome, SNAP25-DEE, congenital myasthenic syndrome caused by mutation in SNAP25, congenital myasthenic syndrome type 18, myasthenic syndrome, congenital, 18, myasthenic syndrome, congenital, 18, with intellectual disability and ataxia, myasthenic syndrome, congenital, type 18

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↑ Congenital nervous system disorder (287) ↑ Presynaptic congenital myasthenic syndrome (1)

Including sub-types (0) Tagged with Congenital myasthenic syndrome 18 (0)

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