Overview
Charcot-Marie-Tooth disease type IF 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
Irregular myelin foldings
Always present (100%)HP:0004336
Onion bulb formation
Always present (100%)HP:0003383
Segmental peripheral demyelination/remyelination
Always present (100%)HP:0003481
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
Demyelinating motor neuropathy
Very frequent (80-99%)HP:0007220
Demyelinating sensory neuropathy
Very frequent (80-99%)HP:0011402
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Sensory impairment
Very frequent (80-99%)HP:0003474
Weakness of outermost muscles
Very frequent (80-99%)HP:0002460
Abnormal hands
Frequent (30-79%)HP:0001155
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Appendicular ataxia
Frequent (30-79%)HP:0002070
Cavus foot
Frequent (30-79%)HP:0001761
Cervical spinal cord atrophy
Frequent (30-79%)HP:0010873
Delayed motor milestones
Frequent (30-79%)HP:0001270
Distal muscle weakness in lower limbs
Frequent (30-79%)HP:0009053
Distal upper limb amyotrophy
Frequent (30-79%)HP:0007149
Hand muscle atrophy
Frequent (30-79%)HP:0009130
Hand muscle weakness
Frequent (30-79%)HP:0030237
Head tremor
Frequent (30-79%)HP:0002346
Hyporeflexia
Frequent (30-79%)HP:0001265
Impaired pain sensation
Frequent (30-79%)HP:0007328
Impaired proprioception
Frequent (30-79%)HP:0010831
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Inability to heel walk
Frequent (30-79%)HP:0009027
Loss of large myelinated fibres
Frequent (30-79%)HP:0003387
Related Conditions
Quick Facts
- SNOMED CT
- 719980006
- UMLS CUI
- C1843164
- Fully Specified Name
- Charcot-Marie-Tooth disease type IF (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.