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growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

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Disease Overview

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.

Synonyms

  • COXPD18
  • SFXN4 combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation deficiency 18
  • combined oxidative phosphorylation deficiency caused by mutation in SFXN4
  • combined oxidative phosphorylation deficiency type 18COXPD18
  • SFXN4 combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation deficiency 18
  • combined oxidative phosphorylation deficiency caused by mutation in SFXN4
  • combined oxidative phosphorylation deficiency type 18
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