# microcephaly and chorioretinopathy 3

> syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has material basis in compound heterozygous mutation in the TUBGCP4 gene

**Wikidata**: [Q22938883](https://www.wikidata.org/wiki/Q22938883)  
**Source**: https://4ort.xyz/entity/microcephaly-and-chorioretinopathy-3


## References

1. Disease Ontology
2. UniProt
3. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29