Conditions / Genetic
developmental and epileptic encephalopathy 50
info · Genetic
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
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.
Signs and symptoms
- Seizure
- Hypotonia
- Abnormal glycosylation
- Failure to thrive
- Renal tubular acidosis
- Anemia
- Acanthocytosis
- Hyperammonemia
- Diarrhea
- Broad-based gait
Also known as: CDG syndrome type Iz; CDG-Iz; Carbohydrate deficient glycoprotein syndrome type Iz; Congenital disorder of glycosylation type 1z; DEE50