A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
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retinal dystrophies primarily involving Bruch's membrane
MONDO:0001666
vitreoretinal dystrophy
MONDO:0001923
dystrophies primarily involving the retinal pigment epithelium
MONDO:0001924
retinal dystrophy in systemic or cerebroretinal lipidoses
MONDO:0001925
age-related macular degeneration
MONDO:0005150
helicoid peripapillary chorioretinal degeneration
MONDO:0007176