Overview
Charcot-Marie-Tooth disease and deafness 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.
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
Demyelinating peripheral neuropathy
Very frequent (80-99%)HP:0007108
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Gait disturbance
Very frequent (80-99%)HP:0001288
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Abnormal pupil morphology
Frequent (30-79%)HP:0000615
Abnormal retropulsion test
Frequent (30-79%)HP:0002172
Abnormality of pain sensation
Frequent (30-79%)HP:0010832
Acroparesthesia
Frequent (30-79%)HP:0031006
Areflexia in lower limbs
Frequent (30-79%)HP:0002522
Cavus foot
Frequent (30-79%)HP:0001761
Distal sensory loss, especially vibratory sense
Frequent (30-79%)HP:0002166
Hand muscle atrophy
Frequent (30-79%)HP:0009130
Hand muscle weakness
Frequent (30-79%)HP:0030237
Hypoplastic calf muscles
Frequent (30-79%)HP:0008962
Hyporeflexia of lower limbs
Frequent (30-79%)HP:0002600
Hyporeflexia of upper limbs
Frequent (30-79%)HP:0012391
Impaired thermal sensitivity
Frequent (30-79%)HP:0010829
Inability to heel walk
Frequent (30-79%)HP:0009027
Loss of tactile sensation
Frequent (30-79%)HP:0010830
Lower limb degeneration
Frequent (30-79%)HP:0008944
Peroneal muscle atrophy
Frequent (30-79%)HP:0009049
Peroneal muscle weakness
Frequent (30-79%)HP:0011727
Sluggish pupillary reaction
Frequent (30-79%)HP:0030211
Tonic pupil
Frequent (30-79%)HP:0012074
Abnormality of balance
Occasional (5-29%)HP:0002141
Cognitive delay
Occasional (5-29%)HP:0001263
Contractures of the hands
Occasional (5-29%)HP:0009473
Coughing
Occasional (5-29%)HP:0012735
Quick Facts
- SNOMED CT
- 715666007
- UMLS CUI
- C2931686
- Fully Specified Name
- Charcot-Marie-Tooth disease type IE (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.