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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

7 tests are in the database for this condition.

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Clinical tests (7 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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