|
|
 ID
|
 Abbreviation
|
Name
|
OMIM ID
|
Individuals
|
Phenotypes
|
Associated with genes
|
Associated tissues
|
Disease features
|
| 00118 |
258450 |
Progressive external ophthalmoplegia, autosomal recessive, 258450 (3) |
258450 |
0 |
0 |
POLG |
- |
- |
| 00048 |
610131 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) |
610131 |
0 |
0 |
POLG2 |
- |
- |
| 00026 |
MTDPS1 |
Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) |
603041 |
0 |
0 |
MT-TK, POLG, TYMP |
- |
- |
| 00032 |
MTDPS4A |
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 |
203700 |
0 |
0 |
POLG |
- |
- |
| 00033 |
MTDPS4B |
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) |
613662 |
0 |
0 |
POLG |
- |
- |
| 00117 |
PEOA1 |
Progressive external ophthalmoplegia, autosomal dominant, 157640 (3) |
157640 |
0 |
0 |
POLG |
- |
- |
| 00042 |
SANDO |
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) |
607459 |
0 |
0 |
C10orf2, POLG |
- |
- |
|
|
