# Leber congenital amaurosis 6

> Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11

**Wikidata**: [Q27677729](https://www.wikidata.org/wiki/Q27677729)  
**Source**: https://4ort.xyz/entity/leber-congenital-amaurosis-6


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Null RPGRIP1 alleles in patients with Leber congenital amaurosis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)