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Usher syndrome type 3B

Synonyms
USHER SYNDROME, TYPE IIIB

Summary

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1983; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902). [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2W, HARS, HRS, USH3B, HARS1
    Summary: histidyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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