# Seckel syndrome 4

> Seckel syndrome that has material basis in homozygous mutation in the CENPJ gene on chromosome 13q12

**Wikidata**: [Q50349583](https://www.wikidata.org/wiki/Q50349583)  
**Source**: https://4ort.xyz/entity/seckel-syndrome-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Novel CENPJ mutation causes Seckel syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)