Autosomal dominant nonsyndromic hearing loss 2B

Synonyms: DFNA 2B Nonsyndromic Hearing Loss and Deafness; Deafness, autosomal dominant 2b

Summary

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. [from MONDO]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

GJB3
97 tests
Also known as: CX31, DFNA2, DFNA2B, EKV, EKVP1, GJB3
Summary: gap junction protein beta 3

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- High-frequency hearing impairment
  High-frequency hearing impairment
  - MedGen UID: 42358
  - Concept ID: C0018780
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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