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early-onset Parkinson disease 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset Parkinson disease 20

MONDO:0014233

Also known as:Parkinson disease caused by mutation in SYNJ1SYNJ1 Parkinson diseaseearly-onset Parkinson disease type 20

Overview

Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.

GeneticsAutosomal recessive · SYNJ1 (chr 21)

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: Slowness of movement (bradykinesia), Dystonia, Cerebral cortical atrophy, and Staring gaze and others; and common findings: Leg muscle stiffness, Muscle stiffness (rigidity), Eyelid apraxia, and Weak voice and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Slowness of movement (bradykinesia), Dystonia, Cerebral cortical atrophy

Genetic Landscape

SYNJ1 function has not been fully characterized.

Early-onset Parkinson disease 20 is associated with mutations in the SYNJ1 gene on chromosome 21.

Diagnosis

Genetic testing for SYNJ1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for early-onset Parkinson disease 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 9 common 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 early-onset Parkinson disease 20.

53 publications have been identified in PubMed for early-onset Parkinson disease 20. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Laboratory research	18	34%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615530

GARD

Genetic and Rare Diseases Info Center

GARD:18462

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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early-onset Parkinson disease 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

early-onset Parkinson disease 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications