| Disease ID | Source | Name | Description |
| 616974 | OMIM | Combined oxidative phosphorylation deficiency 30 (COXPD30) | An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV. The disease is caused by variants affecting the gene represented in this entry. |