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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy and hearing loss 2

Cone-rod dystrophy and hearing loss 2

Summary

Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-NAP1, CEP2, CNAP1, CRDHL2, CEP250
    Summary: centrosomal protein 250

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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