Term Name:	developmental and epileptic encephalopathy 50
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
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.
Ontology:	Human Disease [DOID:0080419]   ( DOID:0080419 )