AIPL1-related retinopathy

MONDO:0100438

A retinopathy caused by biallelic variants in the AIPL1 gene.

Also known as: AIPL1 retinopathy, AIPL1 Leber congenital amaurosis, LCA4, Leber congenital amaurosis 4, Leber congenital amaurosis caused by mutation in AIPL1, Leber congenital amaurosis type 4, amaurosis congenita of Leber, type 4, cone-rod dystrophy

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