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GTR Home > Conditions/Phenotypes > Cataract 31 multiple types

Summary

Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' [from OMIM]

Available tests

17 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: C20orf178, CHMP4A, CTPP3, CTRCT31, SNF7, SNF7-2, Shax1, VPS32B, Vps32-2, dJ553F4.4, CHMP4B
    Summary: charged multivesicular body protein 4B

Clinical features

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