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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)