Vici Syndrome |
and absent corpus callosum, cataract, hypopigmentation, immunodeficiency with cleft lip/palate, VICIS |
EPG5 |
autosomal recessive |
Vitreoretinal Degeneration, Snowflake Type |
snowflake vitreoretinal degeneration, SVD |
KCNJ13 |
autosomal dominant |
Vitreoretinochoroidopathy |
ADVIRC, microcornea, posterior staphyloma, rod-cone dystrophy, cataract, MRCS, VRCP |
BEST1 |
autosomal dominant |
Vitreoretinopathy with Epiphyseal Dysplasia |
chondrocalcin, vitreoretinopathy with phalangeal epiphyseal dysplasia |
COL2A1 |
autosomal dominant |
Von Hippel-Lindau Syndrome |
angiomatosis retinae, VHL, VHL syndrome |
VHL |
autosomal dominant |