Conditions / Genetic
nuclear type mitochondrial complex I deficiency 33
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.
Signs and symptoms
- Encephalopathy
- Mutism
- Poor speech
- Progressive neurologic deterioration
- Seizure
- Metabolic acidosis
- Lactic acidosis
- Status epilepticus
- Global developmental delay
- Increased CSF lactate
Also known as: MC1DN33