combined oxidative phosphorylation deficiency 21

A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has

A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.

Signs and symptoms

• Axial hypotonia
• Cerebral atrophy
• Hypoplasia of the corpus callosum
• Seizure
• Global developmental delay
• Increased circulating lactate concentration
• Increased cerebral lipofuscin
• Reduced eye contact
• Limb hypertonia
• Hyperprolinemia

Also known as: COXPD21