Mondo Description Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.

Uniprot Description An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation.