- TypePhenotype
- Associated genes
- POLG Mitochondrial DNA polymerase gamma catalytic subunit deficiency
- TWNK TWINKLE mitochondrial DNA helicase deficiency
- AARS2 Mitochondrial alanyl-tRNA synthetase deficiency
- HARS2 Mitochondrial histidyl-tRNA synthetase deficiency
- LARS2 Mitochondrial leucyl-tRNA synthetase deficiency
- CLPP CLPP deficiency
- Parent entry