- TypePhenotype
- External link(s)
- Associated genes
- HARS2 Mitochondrial histidyl-tRNA synthetase deficiency
- LARS2 Mitochondrial leucyl-tRNA synthetase deficiency
- TWNK TWINKLE mitochondrial DNA helicase deficiency
- CLPP CLPP deficiency
- ERAL1 ERAL1 deficiency
- HSD17B4 D-bifunctional protein deficiency
- GGPS1 Geranylgeranyl pyrophosphate synthase deficiency
- RMND1 RMND1 deficiency
- Parent entry