| Category | Gene | Protein/Syndrome Disease | Inheritance | OMIM # |
|---|---|---|---|---|
| Kearns-Sayre syndrome | Mitochondrial deletion | - | MT | - |
| Hyperuricemia, pulmonary hypertension, renal failure and alkalotic syndrome | SARS2 | SARS2 | AR | 612804 |
| Hypomagnesemia with secondary hypocalcemia | MT-TI | Mt. tRNAile | MT | 590045 |
