Autosomal recessive nonsyndromic hearing loss 28

Synonyms: DFNB28 Nonsyndromic Hearing Loss and Deafness; Deafness, autosomal recessive 28

Summary

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. [from NCI]

Available tests

23 tests are in the database for this condition.

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Clinical tests (23 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

TRIOBP
38 tests
Also known as: DFNB28, HRIHFB2122, TAP68, TARA, dJ37E16.4, TRIOBP
Summary: TRIO and F-actin binding protein

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Severe sensorineural hearing impairment
  Severe sensorineural hearing impairment
  - MedGen UID: 867175
  - Concept ID: C4021533
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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