# microcephaly lymphoedema chorioretinal dysplasia

> syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability

**Wikidata**: [Q6839330](https://www.wikidata.org/wiki/Q6839330)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Microcephaly_lymphoedema_chorioretinal_dysplasia)  
**Source**: https://4ort.xyz/entity/microcephaly-lymphoedema-chorioretinal-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aabff7c5-06ad-4602-a6f7-fef1bca0d1df-2021-07-01T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138160/MONDO_0007918)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)