/congenital stationary night blindness autosomal dominant 3

congenital stationary night blindness autosomal dominant 3

Rare Disease

MONDO:0012497

Also Known As

CSNBAD3Nougaret type congenital stationary night blindnesscongenital stationary night blindness autosomal dominant type 3night blindness, congenital stationary, autosomal dominant type 3night blindness, congenital stationary, Nougaret typenight blindness, congenital stationary, autosomal dominant 3

Definition

A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.