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Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
disorderSNOMED 787174003CUI C5192595
Overview
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cataract
Frequent (30-79%)HP:0000518
Choreiform movements
Frequent (30-79%)HP:0002072
Cognitive delay
Frequent (30-79%)HP:0001263
Exercise-induced muscle fatigue
Frequent (30-79%)HP:0009020
Gait disturbance
Frequent (30-79%)HP:0001288
Hyperkinetic movements
Frequent (30-79%)HP:0002487
Instability or lack of coordination of central trunk muscles
Frequent (30-79%)HP:0002078
limb girdle muscular dystrophy
Frequent (30-79%)HP:0006785
Low intelligence
Frequent (30-79%)HP:0001249
Muscle pain
Frequent (30-79%)HP:0003326
Muscle weakness, progressive, proximal
Frequent (30-79%)HP:0009073
Myopathy
Frequent (30-79%)HP:0003198
Scoliosis
Frequent (30-79%)HP:0002650
Hypotonia, early
Occasional (5-29%)HP:0008947
Near sighted
Occasional (5-29%)HP:0000545
Restrictive respiratory disease
Occasional (5-29%)HP:0002091
Right ventricular dilatation
Occasional (5-29%)HP:0005133
Seizures
Occasional (5-29%)HP:0001250
Squint
Occasional (5-29%)HP:0000486
Supratentorial atrophy
Occasional (5-29%)HP:0002059
Quick Facts
- SNOMED CT
- 787174003
- UMLS CUI
- C5192595
- Fully Specified Name
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (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.