# Joubert syndrome 13

> Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24

**Wikidata**: [Q32145609](https://www.wikidata.org/wiki/Q32145609)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-13


## References

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