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GENATLAS PHENOTYPE
last update : 16-03-2013
Symbol MCOP3
Location 18q21.32
Name microphthalmia congenital 3
Other name(s) anophthalmia, clinical
Corresponding gene RAX
Other symbol(s) CMIC3
Main clinical features
  • isolated or associated with anterior segment abnormalities, partial or complete sclerocornea
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name retina and anterior neural fold homeobox (RAX)
    Remark(s)