- TypePhenotype
- Associated genes
- BCS1L BCS1L deficiency
- COX10 Cytochrome c oxidase assembly factor 10 deficiency
- SURF1 SURF1 deficiency
- RRM2B Mitochondrial ribonucleotide reductase small subunit deficiency
- DGUOK Mitochondrial deoxyguanosine kinase deficiency
- MPV17 MPV17 deficiency
- SUCLA2 SUCLA2-related succinate-CoA ligase deficiency
- TK2 Mitochondrial thymidine kinase deficiency
- TFSM
- Parent entry