Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Very frequent (80-99%)HP:0001251
Gait disturbance
Very frequent (80-99%)HP:0001288
Increased reflexes
Very frequent (80-99%)HP:0001347
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Poor school performance
Very frequent (80-99%)HP:0001249
Abnormality of movement
Frequent (30-79%)HP:0100022
CP
Frequent (30-79%)HP:0100021
Decreased body height
Frequent (30-79%)HP:0004322
Epilepsy
Frequent (30-79%)HP:0001250
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Squint
Frequent (30-79%)HP:0000486
Abnormality of vision
Occasional (5-29%)HP:0000504
Cataract
Occasional (5-29%)HP:0000518
Eye disease
Occasional (5-29%)HP:0000478
Quick Facts
- SNOMED CT
- 230782004
- UMLS CUI
- C0394006
- Fully Specified Name
- Dysequilibrium syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.