Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.

Uniprot Description An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing.