Orphanet: Fatal infantile cytochrome C oxidase deficiency

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Fatal infantile cytochrome C oxidase deficiency

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Fatal infantile COX deficiency
    • Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 604377  615119  616500  616501
  • UMLS: C1858424
  • MeSH: -
  • GARD: -
  • MedDRA: -
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