developmental and epileptic encephalopathy 50 (DOID:0080419)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type Iz; CDG syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; DEE50; early infantile epileptic encephalopathy 50
Alt IDs: OMIM:616457, ORDO:448010
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.