Disease (ORPHA:466768):
CMT2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation

Associated phenotypes (HPO):
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0007327
hpo_term: Mixed demyelinating and axonal polyneuropathy
chpo_term: 脱髓鞘和轴突混合型多发性周围神经病
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0100290
hpo_term: Abnormality of peripheral somatosensory evoked potentials
chpo_term: 周围体感诱发电位异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003130
hpo_term: Abnormal peripheral myelination
chpo_term: 外周神经髓鞘异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007230
hpo_term: Decreased distal sensory nerve action potential
chpo_term: 远端感觉神经动作电位降低
id: HP:0008948
hpo_term: Proximal upper limb amyotrophy
chpo_term: 上肢近端肌萎缩
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0040131
hpo_term: Abnormal motor nerve conduction velocity
chpo_term: 运动神经传导速度异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003797
hpo_term: Limb-girdle muscle atrophy
chpo_term: 肢带肌萎缩
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0031947
hpo_term: Tongue tremor
chpo_term: 舌震颤
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹