CAPN5-related vitreoretinopathy
ADNIV
exact
CAPN5 vitreoretinopathy
exact
VRNI
exact
autosomal dominant neovascular inflammatory vitreoretinopathy
exact
proliferative vitreoretinopathy
broad
retinitis proliferans
exact
vitreoretinopathy, neovascular inflammatory
exact
vitreoretinopathy, neovascular inflammatory, autosomal dominant
exact
An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
MONDO:0020248
vitreoretinal degeneration
is_a
MONDO:0700115
proliferative vitreoretinopathy
is_a