Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-10-2018
Symbol CCXNS3
Location Xp22.2
Name non syndromic congenital cataract 3
Other name(s)
  • cataract multiple type 40
  • Corresponding gene NHS
    Other symbol(s) CTRCT40
    Main clinical features
  • cataract, described as lamellar, zonular, or perinuclear, with severe visual impairment and pronounced microcornea
  • heterozygous females had posterior suture or posterior stellate cataracts, or a combination of the two, with normal or slight reduction in vision
  • Genetic determination sex linked
    Function/system disorder eye
    Type disease
    Remark(s)