Autosomal recessive nonsyndromic hearing loss 91

Synonyms: Deafness, autosomal recessive 91

Summary

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. [from MONDO]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SERPINB6
35 tests
Also known as: CAP, DFNB91, MSTP057, PI-6, PI6, PTI, SPI3, SERPINB6
Summary: serpin family B member 6

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Progressive hearing impairment
  Progressive hearing impairment
  - MedGen UID: 331224
  - Concept ID: C1842138
  - Finding: Finding
  Ear malformation
  See: Feature record | Search on this feature

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Clinical resources

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