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autosomal recessive nonsyndromic hearing loss 47 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 47

MONDO:0012375

Also known as:deafness, neurosensory, autosomal recessive 47DFNB47autosomal recessive deafness 47

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.

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: Hearing loss (hearing impairment). 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Hearing loss (hearing impairment), Abnormal vestibular function

Age of onset: infancy.

Explore clinical features

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 47.

12 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 47. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609946

GARD

Genetic and Rare Diseases Info Center

GARD:9935

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 47

Overview

Clinical Presentation

Explore clinical features

Prognosis

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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