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last update : 05-04-2016
Symbol MCOPS5
Location 14q23.1
Name microphthalmia syndromic 5
Corresponding gene OTX2
Main clinical features
  • unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder eye
    Type malformation
    Gene product
    Name orthodenticle homolog 2
    Gene mutationChromosome rearrangementEffectComments
    frameshift   haploinsufficiency