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GTR Home > Conditions/Phenotypes > Cataract 3 multiple types

Summary

Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2. [from OMIM]

Available tests

15 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CCA2, CRYB2, CRYB2A, CTRCT3, D22S665, CRYBB2
    Summary: crystallin beta B2

Clinical features

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