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Leber congenital amaurosis 3 | RareConnect | RareConnect.io

/Leber congenital amaurosis

/SPATA7-related retinopathy

/Leber congenital amaurosis 3

Leber congenital amaurosis 3

Rare Disease

MONDO:0011415

Also Known As

LCA3Leber congenital amaurosis 3Leber congenital amaurosis caused by mutation in SPATA7Leber congenital amaurosis type 3SPATA7 Leber congenital amaurosisretinitis pigmentosa, juvenile, autosomal recessiveamaurosis congenita of Leber, type 3retinitis pigmentosa, juvenile, Spata7-related

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 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:604232 ↗

GARD

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