# Leber congenital amaurosis 5

> Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1

**Wikidata**: [Q27677679](https://www.wikidata.org/wiki/Q27677679)  
**Source**: https://4ort.xyz/entity/leber-congenital-amaurosis-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)