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Leber congenital amaurosis 4 | RareConnect | RareConnect.io

/cone-rod dystrophy

/Leber congenital amaurosis

/AIPL1-related retinopathy

/Leber congenital amaurosis 4

Leber congenital amaurosis 4

Rare Disease

MONDO:0011458

Also Known As

cone-rod dystrophyAIPL1 Leber congenital amaurosisLCA4Leber congenital amaurosis 4Leber congenital amaurosis caused by mutation in AIPL1Leber congenital amaurosis type 4amaurosis congenita of Leber, type 4cone-rod dystrophy, Aipl1-relatedretinitis pigmentosa, juvenileretinitis pigmentosa, juvenile, Aipl1-related

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

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

External Resources

OMIM

OMIM:604393 ↗

GARD

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