# Joubert syndrome 2

> Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2

**Wikidata**: [Q32145701](https://www.wikidata.org/wiki/Q32145701)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)