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hearing loss, autosomal recessive 123 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 123

MONDO:0958277

Also known as:deafness, autosomal recessive 123

Overview

GeneticsAutosomal recessive · STX4 (chr 16)

ResearchLimited published research (2 articles)

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); and sometimes findings: Macrocephaly. 4 total HPO annotations.

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

Genetic Landscape

STX4 function has not been fully characterized.

Hearing loss, autosomal recessive 123 is associated with mutations in the STX4 gene on chromosome 16.

Diagnosis

Genetic testing for STX4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 123.

2 publications have been identified in PubMed for hearing loss, autosomal recessive 123. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Maekawa K (2025). [PMID: 40004452](https://pubmed.ncbi.nlm.nih.gov/40004452/). *Genes*. [Epidemiology / Natural History]
Elbagoury NM (2025). [PMID: 40858759](https://pubmed.ncbi.nlm.nih.gov/40858759/). *Eur J Pediatr*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620745

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 123

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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