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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy 22

Cone-rod dystrophy 22

Summary

Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CORD22, FAM57B, FP1188, TLCD3B
    Summary: TLC domain containing 3B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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