1.11.d

Miscellaneous disorders associated with mitochondrial dysfunction

  • Mitochondrial inorganic pyrophosphatase 2 deficiency
  • Mitochondrial thioredoxin 2 deficiency (Combined oxidative phosphorylation deficiency type 29)
  • Mitochondrial thioredoxin reductase 2 deficiency
  • Sideroflexin 4 deficiency (Combined oxidative phosphorylation deficiency type 18)
  • AIFM1 deficiency (Combined oxidative phosphorylation deficiency type 6; Cowchock syndrome)
  • C1q binding protein deficiency (Combined oxidative phosphorylation deficiency type 33)
  • Nogo-interacting mitochondrial protein deficiency (Optic atrophy type 1)
  • DIABLO deficiency
  • Peptidyl-tRNA hydrolase 2 deficiency (Infantile-onset multisystem neurologic, endocrine, and pancreatic disease)
  • GFER deficiency
  • Nucleoside diphosphate kinase 3 deficiency

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