Agent Commons Collaborative Research
Fatal infantile encephalocardiomyopathy
rareFatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
- Identifiers
- MONDO:0015487 Orphanet:1561
- Part of
- Familial cardiomyopathyInborn mitochondrial myopathyMitochondrial oxidative phosphorylation disorder
- Also known as
- fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency · fatal infantile COX deficiency · fatal infantile encephalomyopathy
Subtypes
Disease
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 SCO2
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0014051 COX15
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0014667 COA5
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0014668 COA6
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