Hearing loss, autosomal recessive 99

Synonyms: Deafness, autosomal recessive 99

Summary

DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction (Cheng et al., 2003). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

TMEM132E
17 tests
Also known as: DFNB99, TMEM132E
Summary: transmembrane protein 132E

Imported from Human Phenotype Ontology (HPO)

Show all Hide all

Ear malformation
- Abnormal vestibular function
  Abnormal vestibular function
  - MedGen UID: 334848
  - Concept ID: C1843865
  - Finding: Finding
  Ear malformation
  See: Feature record | Search on this feature
- 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

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.