- TypePhenotype
- External link(s)
- Associated genes
- POLG Mitochondrial DNA polymerase gamma catalytic subunit deficiency
- POLG2 Mitochondrial DNA polymerase gamma accessory subunit deficiency
- TWNK TWINKLE mitochondrial DNA helicase deficiency
- SLC25A4 Adenine nucleotide translocator deficiency
- RRM2B Mitochondrial ribonucleotide reductase small subunit deficiency
- DNA2 DNA2 helicase deficiency
- TK2 Mitochondrial thymidine kinase deficiency
- DGUOK Mitochondrial deoxyguanosine kinase deficiency
- MPV17 MPV17 deficiency
- MGME1 Mitochondrial genome maintenance exonuclease 1 deficiency
- RNASEH1 Mitochondrial ribonuclease H1 deficiency
- SPG7 Paraplegin deficiency
- AFG3L2 m-AAA protease subunit AFG3L2 deficiency
- MT-TN Mitochondrial tRNA-Asn deficiency
- MT-TL2 Mitochondrial tRNA-Leu 2 deficiency
- MT-TL1 Mitochondrial tRNA-Leu 1 deficiency
- MT-TS1 Mitochondrial tRNA-Ser 1 deficiency
- Parent entry
Progressive external opthalmoplegia
(PEO)