mitochondrial complex IV deficiency nuclear type 10

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.

Signs and symptoms

• Oligohydramnios
• Renal hypoplasia
• Increased circulating lactate concentration
• Hepatomegaly
• Increased CSF lactate
• Abnormal CNS myelination
• Ketonuria
• Hypertrophic cardiomyopathy
• Single transverse palmar crease
• Microphthalmia

Also known as: MC4DN10