ORPHA:1561
Fatal infantile cytochrome C oxidase deficiency
Also called Fatal infantile COX deficiency, Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1561 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.