Conditions / Genetic
developmental and epileptic encephalopathy 40
info · Genetic
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
Signs and symptoms
- Hypotonia
- Profound global developmental delay
- Axial hypotonia
- Hypsarrhythmia
- Hyaline membranes
- Small for gestational age
- Seizure
- Cerebral cortical atrophy
- Profound intellectual disability
- Epileptic encephalopathy
Also known as: DEE40; early infantile epileptic encephalopathy 40