Overview
Charcot-Marie-Tooth disease type 2R 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.
Areflexia
Always present (100%)HP:0001284
Cavus foot
Always present (100%)HP:0001761
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Delayed ability to walk
Always present (100%)HP:0031936
Intrinsic hand muscle atrophy
Always present (100%)HP:0008954
Muscle weakness
Always present (100%)HP:0001324
Muscular hypotonia
Always present (100%)HP:0001252
Axonal degeneration
HP:0040078
Axonal neuropathy
HP:0003477
Decreased muscle mass
HP:0003199
Decreased number of large and small myelinated fibres
HP:0003380
Fetal foot inversion
HP:0001762
Floppy windpipe
HP:0002779
Inability to straighten knee
HP:0006380
Inability to walk
HP:0002540
Laryngeal paralysis
HP:0001605
Respiratory insufficiency
HP:0002093
Wide based walk
HP:0002136
Related Conditions
Quick Facts
- SNOMED CT
- 774147002
- UMLS CUI
- C3809655
- Fully Specified Name
- Charcot-Marie-Tooth disease type 2R (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.