Overview
Charcot-Marie-Tooth disease type 2H 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.
Distal limb muscle weakness due to peripheral neuropathy
Always present (100%)HP:0002460
Absent Achilles reflex
HP:0003438
Axonal regeneration
HP:0003450
Cavus foot
HP:0001761
Decreased number of large and small myelinated fibres
HP:0003380
Distal muscle atrophy, upper and lower limbs
HP:0003693
Inability to heel walk
HP:0009027
Loss of distal sensation
HP:0002936
Overactive knee reflex
HP:0007083
Steppage gait
HP:0003376
Upper limb hyperreflexia
HP:0007350
Related Conditions
Quick Facts
- SNOMED CT
- 720637005
- UMLS CUI
- C1843173
- Fully Specified Name
- Charcot-Marie-Tooth disease type 2H (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.