| Disease ID | Source | Name | Description |
| 245400 | OMIM | Mitochondrial DNA depletion syndrome 9 (MTDPS9) | A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. The disease is caused by variants affecting the gene represented in this entry. |