Overview
Charcot-Marie-Tooth disease type 4B3 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.
Absent tendon reflexes
Always present (100%)HP:0001284
Decreased nerve conduction velocity
Always present (100%)HP:0000762
Distal muscle weakness in lower limbs
Always present (100%)HP:0009053
Dropped arches
Always present (100%)HP:0001763
Irregular myelin foldings
Always present (100%)HP:0004336
Loss of distal sensation
Always present (100%)HP:0002936
Lower limb muscle weakness
Always present (100%)HP:0007340
Muscle fibrillation
Always present (100%)HP:0010546
Neurogenic muscle atrophy, especially in the lower limbs
Always present (100%)HP:0003202
Onion bulb formation
Always present (100%)HP:0003383
Upper limb muscle weakness
Always present (100%)HP:0003484
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Loss of ambulation
Frequent (30-79%)HP:0002505
Brain degeneration
Occasional (5-29%)HP:0012444
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Squint
Occasional (5-29%)HP:0000486
Syndactyly
Occasional (5-29%)HP:0001159
Urinary incontinence
Occasional (5-29%)HP:0000020
Decreased size of cranium
HP:0000252
Dull intelligence
Excluded (<1%)HP:0001249
Gait disturbance
HP:0001288
Related Conditions
Quick Facts
- SNOMED CT
- 763345008
- UMLS CUI
- C3695063
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4B3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.