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GENATLAS PHENOTYPE
last update : 20/06/2006
Symbol CORDX3
Location Xp11.4-q13.1
Name cone-rod dystrophy 3
Other name(s) cone dystrophy, 6
Corresponding gene CACNA1F
Other symbol(s) COD6, COD4
Main clinical features very slow progressive cone-rod dystrophy, onset in childhood with myopia, but can begin in adulthood, having no nystagmus or hyperopic refraction, only low grade astigmatism, and in dark adaptation lacks cone threshold and has small or no elevation of rod threshold
Genetic determination sex linked
Function/system disorder eye
Type disease