# Ritscher–Schinzel syndrome

> developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.

**Wikidata**: [Q2155008](https://www.wikidata.org/wiki/Q2155008)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/3C_syndrome)  
**Source**: https://4ort.xyz/entity/ritscher-schinzel-syndrome


## References

1. Disease Ontology
2. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort
3. BabelNet
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)