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Fatal infantile cytochrome C oxidase deficiency

Orpha number ORPHA1561
Synonym(s) Fatal infantile COX deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Prevalence -
Inheritance -
Age of onset Neonatal/infancy
ICD-10
  • G71.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


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Detailed information

Clinical practice guidelines
  • DE (2009)
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