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Charcot-Marie-Tooth disease type 1F
ORPHA:101085 · Disease · Disorder
HPO 表現型（共 50 項）
Very frequent (99-80%)(7)
- Decreased nerve conduction velocityHP:0000762
- Demyelinating motor neuropathyHP:0007220
- Demyelinating sensory neuropathyHP:0011402
- Distal muscle weaknessHP:0002460
- Sensorimotor neuropathyHP:0007141
- Skeletal muscle atrophyHP:0003202
- Somatic sensory dysfunctionHP:0003474
Frequent (79-30%)(24)
- Abnormality of the handHP:0001155
- Absent brainstem auditory responsesHP:0004463
- AreflexiaHP:0001284
- Cervical spinal cord atrophyHP:0010873
- Decreased number of large peripheral myelinated nerve fibersHP:0003387
- Distal lower limb amyotrophyHP:0008944
- Distal lower limb muscle weaknessHP:0009053
- Distal upper limb amyotrophyHP:0007149
- Foot dorsiflexor weaknessHP:0009027
- Gait ataxiaHP:0002066
- Hand muscle atrophyHP:0009130
- Hand muscle weaknessHP:0030237
- Hand tremorHP:0002378
- Head tremorHP:0002346
- Impaired pain sensationHP:0007328
- Impaired proprioceptionHP:0010831
- Impaired vibratory sensationHP:0002495
- Limb ataxiaHP:0002070
- Mixed demyelinating and axonal polyneuropathyHP:0007327
- Motor delayHP:0001270
- Pes cavusHP:0001761
- Positive Romberg signHP:0002403
- Steppage gaitHP:0003376
- Unsteady gaitHP:0002317
Occasional (29-5%)(18)
- Cognitive impairmentHP:0100543
- DysarthriaHP:0001260
- FasciculationsHP:0002380
- Flexion contracture of fingerHP:0012785
- HypotoniaHP:0001252
- Muscle spasmHP:0003394
- Optic nerve hypoplasiaHP:0000609
- ParesthesiaHP:0003401
- Proximal lower limb amyotrophyHP:0008956
- Proximal lower limb muscle weaknessHP:0008994
- Proximal upper limb muscle weaknessHP:0008997
- Restless legsHP:0012452
- Scapular wingingHP:0003691
- ScoliosisHP:0002650
- Sensorineural hearing impairmentHP:0000407
- Tongue atrophyHP:0012473
- Urinary incontinenceHP:0000020
- Weakness of facial musculatureHP:0030319
Very rare (<4-1%)(1)
- Inability to walkHP:0002540