Overview
X-linked Charcot-Marie-Tooth disease type 6 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.
Hand muscle weakness
Always present (100%)HP:0030237
Impaired pain sensation
Always present (100%)HP:0007328
Absent Achilles reflex
Very frequent (80-99%)HP:0003438
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
EMG: axonal abnormality
Very frequent (80-99%)HP:0003482
Gait disturbance
Very frequent (80-99%)HP:0001288
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Lower limb atrophy
Very frequent (80-99%)HP:0008944
Lower limb muscle weakness
Very frequent (80-99%)HP:0007340
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Pes cavus
Very frequent (80-99%)HP:0001761
tremors in hands
Very frequent (80-99%)HP:0002378
Distal sensory loss, especially vibratory sense
Frequent (30-79%)HP:0002166
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Intrinsic hand muscle atrophy
Frequent (30-79%)HP:0008954
Steppage gait
Frequent (30-79%)HP:0003376
Thenar muscle atrophy
Frequent (30-79%)HP:0003393
Decreased distal vibration sense
Occasional (5-29%)HP:0006886
Hyporeflexia at ankle joints
Occasional (5-29%)HP:0009072
No development of motor milestones
Occasional (5-29%)HP:0001270
Sensorineural deafness
Occasional (5-29%)HP:0000407
Neuropathy
HP:0009830
Quick Facts
- SNOMED CT
- 763347000
- UMLS CUI
- C3806702
- Fully Specified Name
- X-linked Charcot-Marie-Tooth disease type 6 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.