Conditions / Genetic
combined oxidative phosphorylation deficiency 53
info · Genetic
A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q
A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33.
Signs and symptoms
- Hypochromic microcytic anemia
- Short stature
- Seizure
- Global developmental delay
- Failure to thrive
- Generalized amyotrophy
- Secondary microcephaly
- Recurrent fever
- CNS hypomyelination
- Hypotonia
Also known as: COXPD53