1.07.d
Disorders of complex IV subunits and assembly factors
- Cytochrome c oxidase subunit 4I1 deficiency
- Cytochrome c oxidase subunit 4I2 deficiency (Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis)
- Cytochrome c oxidase subunit 5A deficiency
- Cytochrome c oxidase subunit 6A1 deficiency (Recessive intermediate Charcot-Marie-Tooth disease type D)
- Cytochrome c oxidase subunit 6A2 deficiency
- Cytochrome c oxidase subunit 6B1 deficiency
- Cytochrome c oxidase subunit 7B deficiency (Linear skin defects with multiple congenital anomalies type 2)
- Cytochrome c oxidase subunit 8A deficiency
- Cytochrome c oxidase subunit NDUFA4 (COXFA4) deficiency
- Cytochrome c oxidase assembly factor 3 deficiency
- Cytochrome c oxidase assembly factor 5 deficiency
- Cytochrome c oxidase assembly factor 6 deficiency
- Cytochrome c oxidase assembly factor 7 deficiency
- Cytochrome c oxidase assembly factor 10 deficiency
- Cytochrome c oxidase assembly factor 14 deficiency
- Cytochrome c oxidase assembly factor 15 deficiency
- Cytochrome c oxidase assembly factor 20 deficiency
- SCO1 deficiency
- SCO2 deficiency
- SURF1 deficiency
- LRPPRC deficiency
- TACO1 deficiency
- PET100 deficiency
- PET117 deficiency
- FASTKD2 deficiency
- APOPT1 deficiency
- CEP89 deficiency
