| Disease ID | Source | Name | Description |
| 615471 | OMIM | Mitochondrial DNA depletion syndrome 13 (MTDPS13) | An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content. The disease is caused by variants affecting the gene represented in this entry. |