DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 50

Early infantile epileptic encephalopathy 50 [DOID:0080419]

An early infantile 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:  early infantile epileptic encephalopathy 50,  DOID:0080419,  CDG syndrome type Iz,  CDG-Iz,  Carbohydrate deficient glycoprotein syndrome type Iz ...