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autosomal recessive nonsyndromic hearing loss 55 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 55

MONDO:0012376

Also known as:DFNB55autosomal recessive deafness 55autosomal recessive nonsyndromic deafness 55

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.

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

Diagnosis

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 55 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 55.

10 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 55. Research spans Basic Science / Preclinical (30%), Clinical Trial Publication (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Laboratory research	3	30%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609952

GARD

Genetic and Rare Diseases Info Center

GARD:9919

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 55

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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