Features include always present findings: Feeding difficulties, Low muscle tone (hypotonia), Lower limb spasticity, and Midface retrusion and others. 17 total HPO annotations.

COX15 encodes cytochrome c oxidase assembly factor COX15 (410 aa). Catalyzes the second reaction in the biosynthesis of heme A, a prosthetic group of mitochondrial cytochrome c oxidase (CcO). Highest expression in Cells EBV-transformed lymphocytes (45.8 TPM) and Adrenal Gland (33.4 TPM).

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 is associated with mutations in the COX15 gene on chromosome 10.

The COX15 protein participates in COX15 transforms heme O to heme A, Metallochaperone inserts 2Cu2+ into MT-CO2, and Metallochaperone inserts Cu2+ into MT-CO1 pathways.

COX15 is classified as a druggable target with score 0.0.

Genetic testing for COX15 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features.