# Joubert syndrome 24

> Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24

**Wikidata**: [Q32145774](https://www.wikidata.org/wiki/Q32145774)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-24


## References

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