" /> Developmental and epileptic encephalopathy 117 - CISMeF





Preferred Label : Developmental and epileptic encephalopathy 117;

Symbol : DEE117;

CISMeF acronym : CMS18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia; Myasthenic syndrome, congenital, 18; CMS18;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptosomal-associated protein, 25-kD gene (SNAP25, 600322.0001);

Prefixed ID : #616330;

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29/09/2025


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