← Back to Conditions
Early onset cerebellar ataxia with retained tendon reflexes
disorderSNOMED 230228004CUI C0393520
Overview
Early onset cerebellar ataxia with retained tendon reflexes 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.
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Corticospinal signs
Frequent (30-79%)HP:0007256
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Jerky ocular pursuit movements
Frequent (30-79%)HP:0008003
Lower limb hypertonia
Frequent (30-79%)HP:0006895
Overactive knee reflex
Frequent (30-79%)HP:0007083
Sensory impairment
Frequent (30-79%)HP:0003474
Upper limb hyperreflexia
Frequent (30-79%)HP:0007350
Cavus foot
Occasional (5-29%)HP:0001761
Decreased or absent ankle reflexes
Occasional (5-29%)HP:0200101
EKG abnormality
Occasional (5-29%)HP:0003115
Impaired visuospatial constructive cognition
Occasional (5-29%)HP:0010794
Intellectual impairment
Occasional (5-29%)HP:0100543
Lower limb muscle weakness
Occasional (5-29%)HP:0007340
Muscle atrophy, generalised
Occasional (5-29%)HP:0003700
Scoliosis
Occasional (5-29%)HP:0002650
Spasticity of lower limb
Occasional (5-29%)HP:0002061
Related Conditions
Quick Facts
- SNOMED CT
- 230228004
- UMLS CUI
- C0393520
- Fully Specified Name
- Early onset cerebellar ataxia with retained tendon reflexes (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.