" /> Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant - CISMeF





Preferred Label : Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant;

Symbol : CMS7A;

CISMeF acronym : CMS7; MYSPC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptotagmin-2 gene (SYT2, 600104.0001);

Prefixed ID : #616040;

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10/06/2025


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