Details of Disease
General Information of Disease (ID: DISOBOCR)
Disease Name | Fatal infantile encephalocardiomyopathy | |||||
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Synonyms |
fatal infantile encephalomyopathy; fatal infantile cytochrome C oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency; fatal infantile COX deficiency; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
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Definition | Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.|Editor note: check GARD xref | |||||
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