fatal infantile encephalocardiomyopathy
MONDO:0015487Mondo
Findings
No curated finding names fatal infantile encephalocardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Definition from the Mondo Disease Ontology (MONDO:0015487), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (4)
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Other names
2 names
Resolves to: fatal infantile encephalocardiomyopathy
- Also called
- fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiencyfatal infantile COX deficiency