Overview
Charcot-Marie-Tooth disease type 4B2 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.
Weakness of outermost muscles
Always present (100%)HP:0002460
Areflexia in lower limbs
Very frequent (80-99%)HP:0002522
Decreased distal sensory nerve action potential
Very frequent (80-99%)HP:0007230
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Distal upper limb muscle weakness
Very frequent (80-99%)HP:0008959
Fine motor skill dysfunction
Very frequent (80-99%)HP:0007010
Foot deformity
Very frequent (80-99%)HP:0001760
Gait disturbance
Very frequent (80-99%)HP:0001288
Irregular myelin foldings
Very frequent (80-99%)HP:0004336
Lower limb muscle weakness
Very frequent (80-99%)HP:0007340
Areflexia of upper limbs
Frequent (30-79%)HP:0012046
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Dysphonia
Frequent (30-79%)HP:0001618
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Laryngeal paralysis
Frequent (30-79%)HP:0001605
Loss of distal sensation
Frequent (30-79%)HP:0002936
Pes cavus
Frequent (30-79%)HP:0001761
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Scoliosis
Frequent (30-79%)HP:0002650
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Cataract
Occasional (5-29%)HP:0000518
Delayed motor milestones
Occasional (5-29%)HP:0001270
Dropped arches
Occasional (5-29%)HP:0001763
Enlarged eyeball
Occasional (5-29%)HP:0000557
Eyelid ptosis
Occasional (5-29%)HP:0000508
Hand muscle weakness
Occasional (5-29%)HP:0030237
Inability to walk
Occasional (5-29%)HP:0002540
Infantile glaucoma
Occasional (5-29%)HP:0001087
Optic atrophy
Occasional (5-29%)HP:0000648
Paresthesia
Occasional (5-29%)HP:0003401
Related Conditions
Quick Facts
- SNOMED CT
- 715800000
- UMLS CUI
- C1858278
- Fully Specified Name
- Charcot-Marie-Tooth disease type 4B2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.