# Joubert syndrome 27

> Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11

**Wikidata**: [Q32145815](https://www.wikidata.org/wiki/Q32145815)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-27


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)