| Disease ID | Source | Name | Description |
| 618567 | OMIM | Mitochondrial DNA depletion syndrome 17 (MTDPS17) | An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. The disease may be caused by variants affecting the gene represented in this entry. |