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autosomal recessive nonsyndromic hearing loss 40 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 40

MONDO:0012002

Also known as:DFNB40autosomal recessive deafness 40autosomal recessive nonsyndromic deafness 40

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Prelingual sensorineural hearing impairment.

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

Explore clinical features

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 40.

11 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 40. Research spans Basic Science / Preclinical (36%), Review / Meta-Analysis (27%), and Other (9%).

Research Type	Count	% of Total
Laboratory research	4	36%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608264

GARD

Genetic and Rare Diseases Info Center

GARD:22607

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 40

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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