Disease (OMIM:205100):
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
Amyotrophic lateral sclerosis 2, juvenile

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0100291
hpo_term: Abnormality of central somatosensory evoked potentials
chpo_term: 异常的中枢体感诱发电位
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002193
hpo_term: Pseudobulbar behavioral symptoms
chpo_term: 假性延髓行为症状
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0002544
hpo_term: Retrocollis
chpo_term: 颈后倾
id: HP:0002501
hpo_term: Spasticity of pharyngeal muscles
chpo_term: 喉头痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0033747
hpo_term: Abnormal exteroceptive sensation
chpo_term: 感受外界刺激异常
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002491
hpo_term: Spasticity of facial muscles
chpo_term: 面肌痉挛
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0002127
hpo_term: Abnormal upper motor neuron morphology
chpo_term: 上运动神经元形态异常