# Joubert syndrome 26

> Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12

**Wikidata**: [Q32145802](https://www.wikidata.org/wiki/Q32145802)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-26


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)