Overview
Charcot-Marie-Tooth disease type 4B1 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 muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Abnormal auditory evoked potentials
HP:0006958
Cobb angle greater than ten degrees
HP:0002650
Decreased motor nerve conduction velocity
HP:0003431
Distal limb muscle weakness due to peripheral neuropathy
HP:0002460
Facial muscle weakness of muscles innervated by CN VII
HP:0010628
Fetal foot inversion
HP:0001762
Irregular myelin foldings
HP:0004336
Irregular myelin loops
HP:0007208
Loss of distal sensation
HP:0002936
No development of motor milestones
HP:0001270
Proximal limb muscle weakness
HP:0003701
Related Conditions
Quick Facts
- SNOMED CT
- 715803003
- UMLS CUI
- C1832399
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4B1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.