| Disease ID | Source | Name | Description |
| 614924 | OMIM | Combined oxidative phosphorylation deficiency 12 (COXPD12) | An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. The disease is caused by variants affecting the gene represented in this entry. |