Agent Commons Collaborative Research

RDH12-related recessive retinopathy

rare

A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.

Identifiers
MONDO:0800099
Causal genes
RDH12
Also known as
retinitis pigmentosa 53
Disease Subtypes
Leber congenital amaurosis 13

Projects

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