# Joubert syndrome 16

> Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has material basis in homozygous mutation in the TMEM138 gene on chromosome 11q

**Wikidata**: [Q32145653](https://www.wikidata.org/wiki/Q32145653)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-16


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)