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hearing loss, autosomal recessive 57 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 57

MONDO:0033201

Also known as:DFNB57deafness, autosomal recessive 57

Overview

GeneticsAutosomal recessive · PDZD7 (chr 10)

OnsetINFANTILE

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: Hearing loss (hearing impairment) and Inner ear hearing loss (sensorineural hearing impairment). 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment)

Genetic Landscape

PDZD7 function has not been fully characterized.

Hearing loss, autosomal recessive 57 is associated with mutations in the PDZD7 gene on chromosome 10.

Diagnosis

Genetic testing for PDZD7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal recessive 57 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 hearing loss, autosomal recessive 57.

13 publications have been identified in PubMed for hearing loss, autosomal recessive 57. Research spans Basic Science / Preclinical (31%), Diagnostic / Biomarker (15%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Laboratory research	4	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618003

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

hearing loss, autosomal recessive 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hearing loss, autosomal recessive 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications