Autosomal dominant nonsyndromic hearing loss 3B

Synonyms: Deafness, autosomal dominant 3b; GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

Summary

Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. [from GeneReviews]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

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

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Adult onset sensorineural hearing impairment
  Adult onset sensorineural hearing impairment
  - MedGen UID: 867176
  - Concept ID: C4021534
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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