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GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 1B

Autosomal recessive nonsyndromic hearing loss 1B

Synonyms
Deafness, autosomal recessive 1b

Summary

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. [from MONDO]

Available tests

50 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6
    Summary: gap junction protein beta 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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