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autosomal recessive nonsyndromic hearing loss 18A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 18A

MONDO:0011192

Also known as:DFNB18AUSH1C autosomal recessive nonsyndromic deafnessautosomal recessive deafness 18A

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.

GeneticsAutosomal recessive · USH1C (chr 11)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment).

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

Explore clinical features

Genetic Landscape

USH1C function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 18A is associated with mutations in the USH1C gene on chromosome 11.

Diagnosis

Genetic testing for USH1C is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602092

GARD

Genetic and Rare Diseases Info Center

GARD:22592

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 18A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team