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Congenital stationary night blindness autosomal dominant 1
- ... NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 PubMed Gal A, Orth U, Baehr W, ...
- ... no history of the disorder in their family. Autosomal dominant mental retardation 35 Genetic Testing Registry: Congenital stationary night blindness 1G National Organization for Rare Disorders (NORD) ClinicalTrials.gov HOUGE-JANSSENS SYNDROME 1; HJS1 PubMed Houge G, Haesen D, Vissers LE, ...
- The GNAT1 gene provides instructions for making a protein called alpha (α)-transducin. This protein is one part (the alpha subunit) of a protein complex called ...
- ... the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary ... to congenital stationary night blindness impairs the enzyme inhibition by ...
- ... the RHO gene have been found to cause autosomal dominant congenital stationary night blindness, which is characterized by a loss of vision ... stationary) over time. Unlike retinitis pigmentosa (described below), ... stationary night blindness does not affect daytime vision.The RHO gene ...
- ... include nearsightedness as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, ...
