# fatal infantile encephalocardiomyopathy

> mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase

**Wikidata**: [Q18553419](https://www.wikidata.org/wiki/Q18553419)  
**Source**: https://4ort.xyz/entity/fatal-infantile-encephalocardiomyopathy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023