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GENATLAS PHENOTYPE
last update : 14-01-2011
Symbol NNO2
Location 11q23.3
Name nanophthalmos 2
Other name(s) microphthalmia, isolated 5
Corresponding gene MFRP
Other symbol(s) MCOP5
Main clinical features
  • both eyes are small, functional, and without major structural defects
  • characterized by a small eye with severe hyperopia, refractive error in the range of +8.00 to +25.00 diopters, no eye malformation and high incidence of angle-closure glaucoma
    • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Gene product
    Name membrane frizzled-related protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion   truncated protein  
    Remark(s)