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GENATLAS PHENOTYPE
last update : 08-06-2016
Symbol FDLAB
Location 8q12.3
Name facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Other name(s) Traboulsi syndrome
Corresponding gene ASPH
Main clinical features
  • dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose
  • highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)