Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cavus foot
Always present (100%)HP:0001761
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Loss of distal sensation
Always present (100%)HP:0002936
Weakness of outermost muscles
Always present (100%)HP:0002460
Muscle weakness
Very frequent (80-99%)HP:0001324
Abnormal pupil morphology
Frequent (30-79%)HP:0000615
Areflexia
Frequent (30-79%)HP:0001284
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Elevated csf protein
Frequent (30-79%)HP:0002922
Hearing impairment
Frequent (30-79%)HP:0000365
Hypertrophic muscles
Frequent (30-79%)HP:0003712
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Peripheral axonal neuropathy
Frequent (30-79%)HP:0003477
Peripheral demyelination
Frequent (30-79%)HP:0011096
Peripheral dysmyelination
Frequent (30-79%)HP:0003469
Delayed motor milestones
Occasional (5-29%)HP:0001270
Sensory impairment
Occasional (5-29%)HP:0003474
Cold-induced muscle cramps
HP:0003449
Decreased number of large and small myelinated fibres
HP:0003380
Hammertoe
HP:0001765
Hypertrophic nerve changes
HP:0003382
Hyporeflexia
HP:0001265
Inability to heel walk
HP:0009027
Irregular myelin foldings
HP:0004336
Limb muscle weakness
HP:0003690
Neuropathy
HP:0009830
Related Conditions
Quick Facts
- SNOMED CT
- 42986003
- UMLS CUI
- C0270912
- Fully Specified Name
- Charcot-Marie-Tooth disease, type IB (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.