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GENATLAS PHENOTYPE
last update : 24-01-2017
Symbol ASMD6
Location 19p13.11
Name ocular anterior segment mesenchymal dysgenesis 6
Corresponding gene CPAMD8
Main clinical features
  • predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, but no retinal abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)