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autosomal recessive nonsyndromic hearing loss 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 23

MONDO:0012293

Also known as:DFNB23PCDH15 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 23

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.

GeneticsAutosomal recessive · PCDH15 (chr 10)

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: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Eyes

Genetic Landscape

PCDH15 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 23 is associated with mutations in the PCDH15 gene on chromosome 10.

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 PCDH15 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 23 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 23.

14 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 23. Research spans Diagnostic / Biomarker (21%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Testing and diagnosis research	3	21%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609533

GARD

Genetic and Rare Diseases Info Center

GARD:22613

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 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

autosomal recessive nonsyndromic hearing loss 23

Overview

Clinical Presentation

Genetic Landscape

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