Conditions / Genetic
developmental and epileptic encephalopathy 56
info · Genetic
A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
Signs and symptoms
- EEG abnormality
- Seizure
- Global developmental delay
- Intellectual disability
- Broad-based gait
- Scoliosis
- Myoclonic seizure
- EEG with polyspike wave complexes
- Anxiety
- Incoordination
Also known as: DEE56; early infantile epileptic encephalopathy 56