Hearing loss, X-linked 6

Synonyms: Deafness, X-linked 6

Summary

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. [from MONDO]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

COL4A6
59 tests
Also known as: CXDELq22.3, DELXq22.3, DFNX6, COL4A6
Summary: collagen type IV alpha 6 chain

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Bilateral sensorineural hearing impairment
  Bilateral sensorineural hearing impairment
  - MedGen UID: 96788
  - Concept ID: C0452138
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature
- Incomplete partition of the cochlea
  Incomplete partition of the cochlea
  - MedGen UID: 868978
  - Concept ID: C4023392
  - Finding: Anatomical Abnormality
  Ear malformation
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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