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GENATLAS PHENOTYPE
last update : 11/12/2006
Symbol MCIA
Location 14q24.3
Name microphthalmia, cataract and severe iris abnormalities
Other name(s) colobomatous microphthalmia-3
Corresponding gene VSX2
Other symbol(s) MCOPCB3
Main clinical features
  • microphthalmia unilateral or bilateral with additional eye findings, microcornea and colobomas of the iris, choroid, optic discs, and/or optic nerve, cataract, and normal intelligence
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name homeodomain containing gene CHX10 loss of function mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function disruption of DNA binding