The association between PRPH2 (Peripherin 2) and Hereditary Retinal Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants176
Symptoms0
Compounds0
Trials0
Publications125
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At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.