| Disease ID | Source | Name | Description |
| 618851 | OMIM | Combined oxidative phosphorylation deficiency 43 (COXPD43) | An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV. The disease is caused by variants affecting the gene represented in this entry. |