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high myopia-sensorineural deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

high myopia-sensorineural deafness syndrome

MONDO:0009082

Also known as:DFNMYPdeafness and myopiadeafness and myopia syndrome

Overview

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

GeneticsAutosomal recessive · SLITRK6 (chr 13)

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 High myopia.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

SLITRK6 function has not been fully characterized.

High myopia-sensorineural deafness syndrome is caused by mutations in the SLITRK6 gene on chromosome 13.

Diagnosis

Genetic testing for SLITRK6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for high myopia-sensorineural deafness syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 high myopia-sensorineural deafness syndrome.

131 publications have been identified in PubMed for high myopia-sensorineural deafness syndrome. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Patient case studies	44	34%

Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 11:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:221200

Orphanet

European rare disease database

Orphanet:363396

GARD

Genetic and Rare Diseases Info Center

GARD:12844

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

high myopia-sensorineural deafness syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Isolated Infantile Onset High Myopia: A Case Series with Long-Term Follow-Up.

Angle Kappa in Patients with Cataracts and High Myopia.

high myopia-sensorineural deafness syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Isolated Infantile Onset High Myopia: A Case Series with Long-Term Follow-Up.

Angle Kappa in Patients with Cataracts and High Myopia.