early-onset Parkinson disease 20
Findings
No curated finding names early-onset Parkinson disease 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014233), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Intermediate young adult onset · Late young adult onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradykinesiaHPOHP:0002067
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Involuntary movementsHPOHP:0004305
- 2 of 2 reported patients
- ParkinsonismHPOHP:0001300
Show the remaining 7
- Gait disturbanceHPOHP:0001288
- 1 of 2 reported patients
- Leg muscle stiffnessHPOHP:0008969
- 1 of 2 reported patients
- Mental deteriorationHPOHP:0001268
- 1 of 2 reported patients
- RigidityHPOHP:0002063
- 1 of 2 reported patients
- Supranuclear gaze palsyHPOHP:0000605
- 1 of 2 reported patients
- TremorHPOHP:0001337
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SYNJ1HGNC:11503
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: early-onset Parkinson disease 20
- Also called
- early-onset Parkinson disease type 20Parkinson disease caused by mutation in SYNJ1SYNJ1 Parkinson disease