# Seckel syndrome 2

> Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11

**Wikidata**: [Q50349586](https://www.wikidata.org/wiki/Q50349586)  
**Source**: https://4ort.xyz/entity/seckel-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. CtIP Mutations Cause Seckel and Jawad Syndromes
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)