combined oxidative phosphorylation defect type 30

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Disease Overview

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


Synonyms

  • COXPD30
  • TRMT10C combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation deficiency 30
  • combined oxidative phosphorylation deficiency caused by mutation in TRMT10C
  • combined oxidative phosphorylation deficiency type 30COXPD30
  • TRMT10C combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation deficiency 30
  • combined oxidative phosphorylation deficiency caused by mutation in TRMT10C
  • combined oxidative phosphorylation deficiency type 30