# Joubert syndrome 15

> Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32

**Wikidata**: [Q32145637](https://www.wikidata.org/wiki/Q32145637)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-15


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)