combined oxidative phosphorylation deficiency 15

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.

Signs and symptoms

• Progressive neurologic deterioration
• Global developmental delay
• Increased CSF lactate
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Reduced visual acuity
• Shortened PR interval
• Wolff-Parkinson-White syndrome
• Cognitive impairment
• Unsteady gait

Also known as: COXPD15