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GTR Home > Conditions/Phenotypes > Cataract 33

Cataract 33

Synonyms
CATARACT 33, CORTICAL; Cataract 33, multiple types

Summary

Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CP115, CP94, CTRCT33, LIFL-H, BFSP1
    Summary: beaded filament structural protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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