Human genes for enhanced S-cone syndrome
Enhanced S-cone syndrome [DOID:0090059]
A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.
Synonyms: enhanced S-cone syndrome, DOID:0090059, enhanced Scone syndrome, enhanced S-cone disease, enhanced S-cone disorder ...