Conditions / Genetic
developmental and epileptic encephalopathy 88
info · Genetic
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
Signs and symptoms
- Progressive microcephaly
- Hypertonia
- Axial hypotonia
- Hypsarrhythmia
- Everted lower lip vermilion
- Seizure
- Global developmental delay
- Depressed nasal bridge
- Hypoplasia of the pons
- Infra-orbital crease
Also known as: DEE88; early infantile epileptic encephalopathy 88