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autosomal recessive nonsyndromic hearing loss 46 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 46

MONDO:0012327

Also known as:DFNB46autosomal recessive deafness 46autosomal recessive nonsyndromic deafness 46

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.

GeneticsAutosomal recessive

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Profound sensorineural hearing impairment. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Profound sensorineural hearing impairment, Absent vestibular function
Brain and nerves

Diagnosis

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 46 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 46.

21 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 46. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	7	33%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 3:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609647

GARD

Genetic and Rare Diseases Info Center

GARD:22615

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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Kisho

autosomal recessive nonsyndromic hearing loss 46

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive nonsyndromic hearing loss 46

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications