| Disease ID | Source | Name | Description |
| 618397 | OMIM | Combined oxidative phosphorylation deficiency 39 (COXPD39) | An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. The disease is caused by variants affecting the gene represented in this entry. |