Features include always present findings: Hypothermia, Short chin, Low muscle tone (hypotonia), and Left ventricular noncompaction and others.

COA6 encodes cytochrome c oxidase assembly factor 6 (125 aa). Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Highest expression in Cells EBV-transformed lymphocytes (47.3 TPM) and Brain Caudate basal ganglia (40.2 TPM).

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 is associated with mutations in the COA6 gene on chromosome 1.

COA6 is classified as a druggable target with score 0.0.

Genetic testing for COA6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features.