# Joubert syndrome 9

> Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15

**Wikidata**: [Q32145925](https://www.wikidata.org/wiki/Q32145925)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-9


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
5. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)