Conditions / Genetic
developmental and epileptic encephalopathy 15
info · Genetic
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
Signs and symptoms
- Primitive reflex
- Hypsarrhythmia
- Hypotonia
- Severe global developmental delay
- Epileptic spasm
- Irritability
- Reduced eye contact
- Epileptic encephalopathy
- Inability to walk
- Atonic seizure
Also known as: DEE15; early infantile epileptic encephalopathy 15