Autosomal dominant nonsyndromic hearing loss 13

Synonyms: DFNA13 Nonsyndromic Hearing Loss and Deafness; Deafness, autosomal dominant 13

Summary

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. [from MONDO]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

COL11A2
207 tests
Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3, COL11A2
Summary: collagen type XI alpha 2 chain

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Sensorineural hearing loss disorder
  Sensorineural hearing loss disorder
  - MedGen UID: 9164
  - Concept ID: C0018784
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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