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GENATLAS PHENOTYPE
last update : 25-10-2018
Symbol ARCC2
Location 22q12.1
Name congenital cataract, autosomal recessive 2
Other name(s)
  • cataract 17, multiple types
  • Corresponding gene CRYBB1
    Other symbol(s) CRTC17
    Main clinical features
  • bilateral confluent nuclear opacification that underwent bilateral nonsimultaneous lens washout and posterior chamber intraocular lens implantation, in infancy (before 4 years)
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)