1.7.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

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