|
Mitochondrial Complex III Deficiency |
approved
|
124000 |
|
|
|
|
Mitochondrial Complex IV Deficiency |
approved
|
220110 |
|
|
|
|
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 2 (MC5DN2) |
approved
|
614052 |
|
|
|
|
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 5 (MC5DN5) |
approved
|
618120 |
|
|
|
|
Mitochondrial Complex V Deficiency |
approved
|
604273 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 13 (MTDPS13) |
approved
|
615471 |
|
|
Mitochondrial DNA Depletion Syndrome 15 (MTDPS15) |
approved
|
617156 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) (MTDPS2) |
approved
|
609560 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 3 (MTDPS3) |
approved
|
251880 |
|
|
|
|
Mitochondrial DNA depletion syndrome 4A (Alpers type) (MTDPS4A) |
approved
|
203700 |
|
|
Mitochondrial DNA Depletion Syndrome 5 (MTDPS5) |
approved
|
612073 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 6 (MTDPS6) |
approved
|
256810 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 7 (MTDPS7) |
approved
|
271245 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 8A (MTDPS8A) |
approved
|
612075 |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 9 (MTDPS9) |
approved
|
245400 |
|
|
|
|
Mitochondrial Myopathy and Ataxia (MMYAT) |
approved
|
OMIM #617675 (autosomal recessive) |
|
|
|
|
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D; Leigh syndrome) |
approved
|
616277 |
|
|
|
|
Mitochondrial Trifunctional Protein Deficiency |
approved
|
609015 |
|
|
|
|
Molybdenum Cofactor Deficiency Type B (MOCODB) |
approved
|
252160 |
|
|
|
|
Muckle-Wells Syndrome (MWS) |
approved
|
191900 |
|
|
|
