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GENATLAS PHENOTYPE

last update : 01-06-2016

Symbol	CSNB9
Location	12p13.31
Name	blindness night congenital, stationary 9
Corresponding gene	GNB3
Main clinical features	photophobia and color vision deficits were noted only in middle aged subjects non-progressive disease of impaired night vision characteristic electroretinogram (ERG) abnormalities (Rod ERG findings suggested partial or severe rod ON bipolar dysfunction) variable degrees of ON bipolar dysfunction and reduced cone sensitivity
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)