combined oxidative phosphorylation deficiency 14

A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25

A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.

Signs and symptoms

• Seizure
• Cerebral cortical atrophy
• Cerebellar atrophy
• Elevated brain lactate level by MRS
• Copper accumulation in liver
• Myoclonic seizure
• Atrophy/Degeneration affecting the brainstem
• Lactic acidosis
• Basal ganglia gliosis
• Microcephaly

Also known as: COXPD14