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GTR Home > Conditions/Phenotypes > X-linked cone-rod dystrophy 3

X-linked cone-rod dystrophy 3

Summary

Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013). For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020. [from OMIM]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2, CACNA1F
    Summary: calcium voltage-gated channel subunit alpha1 F

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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