# microcephaly and chorioretinopathy 2

> syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has material basis in homozygous mutation in the PLK4 gene

**Wikidata**: [Q22938882](https://www.wikidata.org/wiki/Q22938882)  
**Source**: https://4ort.xyz/entity/microcephaly-and-chorioretinopathy-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)