Disease (OMIM:117360):
SPINOCEREBELLAR ATAXIA 29
Spinocerebellar ataxia 29, congenital nonprogressive

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0030177
hpo_term: Abnormality of peripheral nervous system electrophysiology
chpo_term: 周围神经系统电生理异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002423
hpo_term: Long-tract signs
chpo_term: 长束征
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0034435
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0004428
hpo_term: Elfin facies
chpo_term: 小精灵脸
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012428
hpo_term: Prominent calcaneus
chpo_term: 跟骨突出
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0033128
hpo_term: Delayed ability to crawl
chpo_term: 爬行能力延迟
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0007885
hpo_term: Slowed horizontal saccades
chpo_term: 水平扫视缓慢
id: HP:0007369
hpo_term: Atrophy/Degeneration affecting the cerebrum
chpo_term: 影响大脑的萎缩/退化
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0030147
hpo_term: Truncal titubation
chpo_term: 躯干摇晃/躯干蹒跚
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0033257
hpo_term: Delayed ability to walk with support
chpo_term: 辅助行走能力发育延迟
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0012896
hpo_term: Abnormal motor evoked potentials
chpo_term: 运动诱发电位异常
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0007859
hpo_term: Congenital horizontal nystagmus
chpo_term: 先天性水平眼球震颤
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0430025
hpo_term: Bilateral facial palsy
chpo_term: 双侧面瘫
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0033683
hpo_term: Jaw hyperreflexia
chpo_term: 下颌反射亢进
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0009878
hpo_term: Cerebellar ataxia associated with quadrupedal gait
chpo_term: 小脑性共济失调与四足步态相关
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震