The association between BBS5 (Bardet-Biedl Syndrome 5) and Hereditary Retinal Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.
Sources1
Clinical variants3
Symptoms0
Compounds0
Trials0
Publications4
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.