CMS18SNAP25 congenital myasthenic syndromeSNAP25-DEEcongenital myasthenic syndrome caused by mutation in SNAP25congenital myasthenic syndrome type 18myasthenic syndrome, congenital, 18myasthenic syndrome, congenital, 18, with intellectual disability and ataxiamyasthenic syndrome, congenital, type 18
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
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