Leber congenital amaurosis 4

MONDO:0011458

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.

Also known as: cone-rod dystrophy, 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, Aipl1-related

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