Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Choreiform movements
Frequent (30-79%)HP:0002072
Focal dystonia
Frequent (30-79%)HP:0004373
Imbalance
Frequent (30-79%)HP:0002172
Involuntary closure of eyelid
Frequent (30-79%)HP:0000643
Parkinsonian tremor
Frequent (30-79%)HP:0002322
Parkinsonism with favorable response to dopaminergic medication
Frequent (30-79%)HP:0002548
Progressive extrapyramidal muscular rigidity
Frequent (30-79%)HP:0007158
Shuffled walk
Frequent (30-79%)HP:0002362
Slowness of movements
Frequent (30-79%)HP:0002067
Torsion dystonia
Frequent (30-79%)HP:0001304
tremors in hands
Frequent (30-79%)HP:0002378
Aspiration pneumonia
Occasional (5-29%)HP:0011951
Frequent falls
Occasional (5-29%)HP:0002359
Gait disturbance
Occasional (5-29%)HP:0001288
Impaired oropharyngeal swallow response
Occasional (5-29%)HP:0031162
Laryngeal stridor
Occasional (5-29%)HP:0006511
Limb dystonia
Occasional (5-29%)HP:0002451
Lingual protrusion
Occasional (5-29%)HP:0010808
Involuntary jerking movements
HP:0001336
Tremor
HP:0001337
Quick Facts
- SNOMED CT
- 698279003
- UMLS CUI
- C1839130
- Fully Specified Name
- X-linked dystonia parkinsonism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.