Mondo Description Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.

Uniprot Description A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.