Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal craniofacial muscle tone
Frequent (30-79%)HP:0012179
Bulbar signs
Frequent (30-79%)HP:0002483
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed motor milestones
Frequent (30-79%)HP:0001270
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Hypomimic face
Frequent (30-79%)HP:0000338
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Limb dystonia
Frequent (30-79%)HP:0002451
Mutism
Frequent (30-79%)HP:0002300
Parkinsonian disease
Frequent (30-79%)HP:0001300
Postural instability
Frequent (30-79%)HP:0002172
Sialorrhea
Frequent (30-79%)HP:0002307
Slowness of movements
Frequent (30-79%)HP:0002067
Torticollis
Frequent (30-79%)HP:0000473
Tremor
Frequent (30-79%)HP:0001337
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Depressive episode
Occasional (5-29%)HP:0000716
Emotional lability
Occasional (5-29%)HP:0000712
Excessive, persistent worry and fear
Occasional (5-29%)HP:0000739
Seizures
Occasional (5-29%)HP:0001250
Tremor at rest
Occasional (5-29%)HP:0002322
Generalised decreased muscle tone
Very rare (1-4%)HP:0001290
Dystonic disease
HP:0001332
Unsteady walk
HP:0002317
Quick Facts
- SNOMED CT
- 702323008
- UMLS CUI
- C1868681
- Fully Specified Name
- Rapid onset dystonia parkinsonism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.