Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed somatosensory central conduction time
Always present (100%)HP:0100291
Perseverative behaviour
Always present (100%)HP:0030223
Progressive cerebellar ataxia
Always present (100%)HP:0002073
Short term memory loss
Always present (100%)HP:0033687
Absent deep tendon reflexes
Very frequent (80-99%)HP:0001284
Ataxia
Very frequent (80-99%)HP:0001251
Corticospinal signs
Very frequent (80-99%)HP:0007256
Extensor plantar responses
Very frequent (80-99%)HP:0003487
Muscle weakness
Very frequent (80-99%)HP:0001324
Peripheral neuropathy
Very frequent (80-99%)HP:0009830
Vitamin E deficiency
Very frequent (80-99%)HP:0100513
Abnormal finger-nose-finger test
Frequent (30-79%)HP:0001310
Abnormal vocalization
Frequent (30-79%)HP:0002167
Clumsiness
Frequent (30-79%)HP:0002312
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Degeneration of cerebellum
Frequent (30-79%)HP:0001272
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysdiadochokinesis
Frequent (30-79%)HP:0002075
Gait disturbance
Frequent (30-79%)HP:0001288
Head titubation
Frequent (30-79%)HP:0002599
Impaired proprioception
Frequent (30-79%)HP:0010831
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Night blindness
Frequent (30-79%)HP:0000662
Pes cavus
Frequent (30-79%)HP:0001761
Sensory neuropathy
Frequent (30-79%)HP:0000763
Abnormal heart rate
Occasional (5-29%)HP:0011675
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Abnormality of RPE
Occasional (5-29%)HP:0007703
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Diabetes mellitus
Occasional (5-29%)HP:0000819
Quick Facts
- SNOMED CT
- 702442008
- UMLS CUI
- C1848533
- Fully Specified Name
- Ataxia with vitamin E deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.