/Leber congenital amaurosis 6

Leber congenital amaurosis 6

Rare Disease

MONDO:0013446

Also Known As

LCA6Leber congenital amaurosis 6Leber congenital amaurosis caused by mutation in RPGRIP1Leber congenital amaurosis type 6RPGRIP1 Leber congenital amaurosis

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.

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Associated Genes

RPGRIP1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:613826 ↗

GARD

GARD:10490 ↗

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