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References OMIM Gene GeneReviews HGMD HGNC
last update : 24/12/2008
Symbol ASMD3
Location 11p13
Name ocular anterior segment mesenchymal dysgenesis 3
Other name(s) Peters anomaly with cataract, Axenfeld-Rieger spectrum
Corresponding gene PAX6
Main clinical features
  • results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris
  • congenital corneal opacity with cataract
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type malformation
    Gene product
    Name paired box containing protein 6 (PAX6)