Developmental and epileptic encephalopathy 117 - CISMeF
Developmental and epileptic encephalopathy 117OMIM Phenotype
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);