Overview
Charcot-Marie-Tooth disease type 4H 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 motor nerve conduction velocity
Always present (100%)HP:0003431
Decreased number of large and small myelinated fibres
Always present (100%)HP:0003380
Delayed motor milestones
Always present (100%)HP:0001270
Hypoaesthesia
Always present (100%)HP:0033748
Onion bulb formation
Always present (100%)HP:0003383
Unsteady walk
Always present (100%)HP:0002317
Decreased thenar eminence
Frequent (30-79%)HP:0001245
Fetal foot inversion
Frequent (30-79%)HP:0001762
Scoliosis
Frequent (30-79%)HP:0002650
Small hypothenar eminence
Frequent (30-79%)HP:0010487
Distal muscle weakness in lower limbs
HP:0009053
Hyporeflexia
HP:0001265
Loss of distal sensation
HP:0002936
Lower limb muscle hypotrophy
HP:0008944
Peripheral hypomyelination
HP:0007182
Pes cavus
HP:0001761
Upper limb muscle weakness
HP:0003484
Waddling gait
HP:0002515
Related Conditions
Quick Facts
- SNOMED CT
- 715802008
- UMLS CUI
- C1836336
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4H (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.