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GENATLAS PHENOTYPE
last update : 20-04-2011
Symbol LCA11
Location 7q32.1
Name Leber congenital amaurosis, type 11
Corresponding gene IMPDH1
Main clinical features
  • nystagmus, night blindness, profound visual deficiency, without hypermetropia, rod cone dystrophy
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)