1.10.c
Disorders of the mitoribosome
- Mitochondrial ribosomal large subunit 3 deficiency (Combined oxidative phosphorylation deficiency type 9)
- Mitochondrial ribosomal large subunit 12 deficiency
- Mitochondrial ribosomal large subunit 24 deficiency
- Mitochondrial ribosomal large subunit 44 deficiency (Combined oxidative phosphorylation deficiency type 16)
- Mitochondrial ribosomal small subunit 2 deficiency
- Mitochondrial ribosomal small subunit 7 deficiency
- Mitochondrial ribosomal small subunit 14 deficiency
- Mitochondrial ribosomal small subunit 16 deficiency (Combined oxidative phosphorylation deficiency type 2)
- Mitochondrial ribosomal small subunit 22 deficiency (Combined oxidative phosphorylation deficiency type 5)
- Mitochondrial ribosomal small subunit 23 deficiency
- Mitochondrial ribosomal small subunit 25 deficiency (Combined oxidative phosphorylation deficiency type 50)
- Mitochondrial ribosomal small subunit 28 deficiency
- Mitochondrial ribosomal small subunit 34 deficiency (Combined oxidative phosphorylation deficiency type 32)
- Mitochondrial ribosomal small subunit 39 deficiency
- ERAL1 deficiency (Perrault syndrome type 6)
- Mitochondrial rRNA methyltransferase 2 deficiency
- RMND1 deficiency (Combined oxidative phosphorylation deficiency type 11)
- Mitochondrial elongation factor G1 deficiency (Combined oxidative phosphorylation deficiency type 1)
- Mitochondrial elongation factor G2 deficiency
- Mitochondrial elongation factor Ts deficiency (Combined oxidative phosphorylation deficiency type 3)
- Mitochondrial elongation factor Tu deficiency (Combined oxidative phosphorylation deficiency type 4)
- C12orf65 release factor deficiency (Combined oxidative phosphorylation deficiency type 7; autosomal recessive spastic paraplegia type 55)
- GUF1 deficiency (Early infantile epileptic encephalopathy 4)
