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hearing loss, autosomal recessive 118, with cochlear aplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 118, with cochlear aplasia

MONDO:0030449

Also known as:DFNB118deafness, autosomal recessive 118, with cochlear aplasia

Overview

GeneticsAutosomal recessive

OnsetCONGENITAL

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: Cochlear aplasia and Congenital sensorineural hearing impairment. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Cochlear aplasia, Congenital sensorineural hearing impairment

Prognosis

Phenotype severity distribution: 2 always present features.

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619553

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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hearing loss, autosomal recessive 118, with cochlear aplasia

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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