Conditions / Genetic
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
info · Genetic
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
Signs and symptoms
- Dystonia
- Seizure
- Hypotonia
- Global developmental delay
- Secondary microcephaly
- Increased CSF lactate
- Brain atrophy
- Focal-onset seizure
- Refractory status epilepticus
Also known as: MC5DN7