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fatal infantile encephalocardiomyopathy

Disease Summary
Associated Targets (4)
Tbio

3

Tdark

1


Mondo Description Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Mondo Term and Equivalent IDs
MONDO:0015487:  fatal infantile encephalocardiomyopathy
DC:0000488: 
GARD:0001113: 
Orphanet:1561: 
SCTID:718124006: