combined oxidative phosphorylation deficiency 2

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.

Signs and symptoms

Lethargy
Hypokinesia
Brachydactyly
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial ATP synthase complex
Agenesis of corpus callosum
Increased circulating lactate concentration
Decreased activity of mitochondrial complex I
Mild fetal ventriculomegaly
Edema

Also known as: COXPD2; agenesis of corpus callosum with dysmorphism and fatal lactic acidosis