# Meckel syndrome 4

> Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32

**Wikidata**: [Q50349683](https://www.wikidata.org/wiki/Q50349683)  
**Source**: https://4ort.xyz/entity/meckel-syndrome-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)