Conditions / Genetic
mitochondrial complex III deficiency nuclear type 7
info · Genetic
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.
Signs and symptoms
- Epicanthus
- Upslanted palpebral fissure
- Seizure
- Hypotonia
- Failure to thrive
- Aggressive behavior
- Breech presentation
- Lactic acidosis
- Oligohydramnios
- Status epilepticus