Conditions / Genetic
combined oxidative phosphorylation deficiency 45
info · Genetic
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.
Signs and symptoms
- Epicanthus
- Axial hypotonia
- Absent speech
- Cardiac arrest
- Seizure
- Increased circulating lactate concentration
- Global developmental delay
- Short neck
- Ataxia
- Decreased activity of mitochondrial complex I
Also known as: COXPD45