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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol CDM2
Location 17q21.1
Name corneal dystrophy, juvenile epitihelial 2, of Meesmann
Other name(s) Meesmann corneal dystrophy
Corresponding gene KRT12
Other symbol(s) MECD
Main clinical features
  • German type, causing fragility of the anterior corneal epithelium, intraepithelial microcysts visible on slit-lamp examination within the first year of life, increasing in number with age but remaining asymptomatic until late adolescence
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name keratin 12 (KRT12)
    Remark(s)