Human genes for developmental and epileptic encephalopathy 50
Developmental and epileptic encephalopathy 50 [DOID:0080419]
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.
Synonyms: developmental and epileptic encephalopathy 50, DOID:0080419, CDG syndrome type Iz, CDG-Iz, Carbohydrate deficient glycoprotein syndrome type Iz ...