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Parkinson's disease 20
Summary
- Synonym
-
- early-onset Parkinson disease 20
- early-onset Parkinson's disease 20
- Definition
- An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060898
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002425 | Anarthria |
| HP:0001761 | Pes cavus |
| HP:0012378 | Fatigue |
| HP:0001265 | Hyporeflexia |
| HP:0007164 | Slowed slurred speech |
| HP:0002172 | Postural instability |
| HP:0001249 | Intellectual disability |
| HP:0002322 | Resting tremor |
| HP:0007311 | Short stepped shuffling gait |
| HP:0001336 | Myoclonus |
