Disease (ORPHA:324442):
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM

Associated phenotypes (HPO):
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
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:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0100288
hpo_term: EMG: myokymic discharges
chpo_term: 肌电图:肌纤维颤搐放电
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0030198
hpo_term: Fatigable weakness of distal limb muscles
chpo_term: 远端肢体肌肉疲劳性无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003760
hpo_term: Percussion-induced rapid rolling muscle contractions
chpo_term: 扣击引起的快速滚动的肌肉收缩（PIRC）
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0008991
hpo_term: Exercise-induced leg cramps
chpo_term: 运动诱发腿抽筋
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0009077
hpo_term: Weakness of long finger extensor muscles
chpo_term: 第三指伸肌无力
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0004686
hpo_term: Short third metatarsal
chpo_term: 第三跖骨过短
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲