Conditions / Genetic
combined oxidative phosphorylation deficiency 50
info · Genetic
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.
Signs and symptoms
- Delayed ability to roll over
- Poor head control
- Hip dysplasia
- Microcephaly
- Dysphagia
- Delayed ability to walk
- Short stature
- Global developmental delay
- Motor delay
- Delayed ability to crawl
Also known as: COXPD50