congenital stationary night blindness 1H (DOID:0110866)
Alliance: disease page
Synonyms: congenital stationary night blindness type 1H; CSNB1H
Alt IDs: OMIM:617024
Definition: A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.