Disease (ORPHA:99949):
Charcot-Marie-Tooth disease type 4C
CMT4C

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0007209
hpo_term: Facial paralysis
chpo_term: 面瘫
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛