Overview
Charcot-Marie-Tooth disease type 2S 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.
Lower limb muscle weakness
Always present (100%)HP:0007340
Upper limb muscle weakness
Always present (100%)HP:0003484
Areflexia in lower limbs
Very frequent (80-99%)HP:0002522
Areflexia of upper limbs
Frequent (30-79%)HP:0012046
Loss of distal sensation
Frequent (30-79%)HP:0002936
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Proximal neurogenic muscle weakness
Occasional (5-29%)HP:0003701
Scoliosis
Occasional (5-29%)HP:0002650
Wasting of the tongue
Occasional (5-29%)HP:0012473
Axonal degeneration
HP:0040078
Gait disturbance
HP:0001288
Hyporeflexia
HP:0001265
Inability to heel walk
HP:0009027
Nerve damage causing decreased feeling and movement
HP:0007141
Steppage gait
HP:0003376
Related Conditions
Quick Facts
- SNOMED CT
- 1187617004
- UMLS CUI
- C4015349
- Fully Specified Name
- Charcot-Marie-Tooth disease type 2S (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.