Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 15
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.
Signs and symptoms
- Hyporeflexia
- Microcephaly
- Scoliosis
- Short stature
- Deeply set eye
- Atonic seizure
- Hyperglycinemia
- Global developmental delay
- Increased circulating lactate concentration
- Pigmentary retinopathy
Also known as: MC4DN15