# Joubert syndrome 21

> Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13

**Wikidata**: [Q32145729](https://www.wikidata.org/wiki/Q32145729)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-21


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e24d1591-91b7-4c2f-bd79-d4dc8be0974d-2021-06-23T160000.000Z)
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)