# Joubert syndrome 3

> Joubert syndrome that has material basis in homozygous mutation in the AHI1 gene on chromosome 6q23.3

**Wikidata**: [Q32145844](https://www.wikidata.org/wiki/Q32145844)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)