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deafness, Y-linked 2 (DFNY2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness, Y-linked 2

MONDO:0027048

Also known as:DFNY2deafness, Y-linked 2, Y-linked

Overview

GeneticsY-linked · TBL1Y (chr Y)

ResearchLimited published research (1 article)

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

TBL1Y function has not been fully characterized.

Deafness, Y-linked 2 is associated with mutations in the TBL1Y gene on chromosome Y.

Diagnosis

Genetic testing for TBL1Y is available. Testing is considered confirmatory for diagnosis.

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 deafness, Y-linked 2.

1 publication has been identified in PubMed for deafness, Y-linked 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

Lavorando E (2024). [PMID: 39048311](https://pubmed.ncbi.nlm.nih.gov/39048311/). *Genes Dev*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:400047

Questions for Your Care Team

→Should I pursue genetic testing for TBL1Y, and what would the results mean for my family?
→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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deafness, Y-linked 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team