Conditions / Genetic
developmental and epileptic encephalopathy 96
info · Genetic
A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21.
Signs and symptoms
- Profound intellectual disability
- EEG with burst suppression
- Epileptic encephalopathy
- Neonatal respiratory distress
- Epileptic spasm
- Small for gestational age
- Tonic seizure
- Primary microcephaly
- Hydrops fetalis
Also known as: DEE96