| Disease ID | Source | Name | Description |
| 612073 | OMIM | Mitochondrial DNA depletion syndrome 5 (MTDPS5) | A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. The disease is caused by variants affecting the gene represented in this entry. |