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dystonia 30 (DYT30) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 30

MONDO:0025691

Also known as:DYT30

Overview

GeneticsAutosomal dominant · VPS16 (chr 20)

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: Dystonia; and sometimes findings: Torticollis, Writer's cramp, Hypothalamic hamartoma, and Mild intellectual disability and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Mild intellectual disability, Moderate intellectual disability, Dystonia

Genetic Landscape

VPS16 function has not been fully characterized.

Dystonia 30 is associated with mutations in the VPS16 gene on chromosome 20.

Diagnosis

Genetic testing for VPS16 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dystonia 30 has been reported in the published literature.

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 dystonia 30.

194 publications have been identified in PubMed for dystonia 30. Research spans Epidemiology / Natural History (21%), Clinical Trial Publication (20%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	40	21%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619291

Questions for Your Care Team

→Should I pursue genetic testing for VPS16, 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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dystonia 30

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

dystonia 30

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