| Disease ID | Source | Name | Description |
| 615918 | OMIM | Combined oxidative phosphorylation deficiency 21 (COXPD21) | A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. The disease is caused by variants affecting the gene represented in this entry. |