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autosomal recessive nonsyndromic hearing loss 124 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 124

MONDO:0968981

Also known as:deafness, autosomal recessive 124

Overview

GeneticsAutosomal recessive · PKHD1L1 (chr 8)

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). 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment)

Genetic Landscape

PKHD1L1 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 124 is associated with mutations in the PKHD1L1 gene on chromosome 8.

Diagnosis

Genetic testing for PKHD1L1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620794

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 124

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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