U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 48

Autosomal recessive nonsyndromic hearing loss 48

Synonyms
Deafness, autosomal recessive 48

Summary

DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012). [from OMIM]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNB48, KIP2, USH1J, CIB2
    Summary: calcium and integrin binding family member 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.