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autosomal recessive nonsyndromic hearing loss 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 28

MONDO:0012355

Also known as:DFNB28TRIOBP autosomal recessive nonsyndromic deafnessautosomal recessive deafness 28

Overview

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.

GeneticsAutosomal recessive · TRIOBP (chr 22)

Clinical Presentation

Features include: Severe sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Severe sensorineural hearing impairment

Explore clinical features

Genetic Landscape

TRIOBP function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 28 is associated with mutations in the TRIOBP gene on chromosome 22.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TRIOBP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 28 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 28.

12 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 28. Research spans Review / Meta-Analysis (20%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	2	20%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609823

GARD

Genetic and Rare Diseases Info Center

GARD:22617

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 28

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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