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GTR Home > Conditions/Phenotypes > Cataract 22 multiple types

Cataract 22 multiple types

Synonyms
CATARACT 22, MULTIPLE TYPES, AUTOSOMAL DOMINANT; CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE; Cataract 22; Cataract, congenital nuclear, autosomal recessive 2

Summary

Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.' [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CATCN2, CRYB3, CTRCT22, CRYBB3
    Summary: crystallin beta B3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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