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GENATLAS PHENOTYPE
last update : 11-02-2014
Symbol MCOPS11
Location 10q25.3
Name microphthalmia, syndromic 11
Corresponding gene VAX1
Main clinical features
  • severe microphthalmia and bilateral cleft lip and palate, mental retardation
  • MRI of the brain revealed absence of normal ocular globes bilaterally, with a fluid-filled cyst in the right orbit, and small optic nerves; the corpus callosum and pineal gland were absent, and the hippocampus had a vertical orientation
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    Type disease
    Remark(s)