Developmental and Epileptic Encephalopathy 65 - CISMeF
Developmental and Epileptic Encephalopathy 65NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 65;
NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 65; EIEE65; DEE65;
NCIt definition : An autosomal dominant form of developmental and epileptic encephalopathy, caused by
mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.;