# mitochondrial complex III deficiency nuclear type 8

> mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has material basis in homozygous mutation in the LYRM7 gene on chromosome 5q23

**Wikidata**: [Q26492812](https://www.wikidata.org/wiki/Q26492812)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-iii-deficiency-nuclear-type-8


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)