combined oxidative phosphorylation deficiency 46

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.

Signs and symptoms

• Decreased liver function
• Decreased activity of mitochondrial complex IV
• Decreased activity of mitochondrial complex I

Also known as: COXPD46