Conditions / Genetic
combined oxidative phosphorylation deficiency 32
info · Genetic
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3.
Signs and symptoms
- Lactic acidosis
- Increased circulating lactate concentration
- Global developmental delay
- Increased CSF lactate
- Dysphagia
- Inability to walk
- Hypotonia
- Constipation
- Hyperreflexia
- Microcephaly
Also known as: COXPD32