combined oxidative phosphorylation deficiency 20

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.

Signs and symptoms

Hypertonia
Cerebellar hypoplasia
Hypoplasia of the corpus callosum
Progressive external ophthalmoplegia
Elevated brain lactate level by MRS
Hypotonia
Ataxia
Left ventricular noncompaction
EEG with burst suppression
Decreased activity of mitochondrial complex I

Also known as: COXPD20