# IVIC Syndrome

> IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss

**Wikidata**: [Q29014920](https://www.wikidata.org/wiki/Q29014920)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/IVIC_syndrome)  
**Source**: https://4ort.xyz/entity/ivic-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101115/MONDO_0007836)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)