Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.

Uniprot Description A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy.