cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Findings

No curated finding names cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Death in infancy · Congenital onset · Infantile onset · Middle age onset · Juvenile onset · Neonatal onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• fatal infantile encephalocardiomyopathy

Resolves to: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Also called

cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1fatal infantile encephalocardiomyopathy caused by mutation in SCO2mitochondrial complex IV deficiency, nuclear type 2SCO2 fatal infantile encephalocardiomyopathy