Disease (OMIM:614756):
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005768
hpo_term: 2-4 toe cutaneous syndactyly
chpo_term: 第二-四趾皮肤性并趾
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0010485
hpo_term: Hyperextensibility at elbow
chpo_term: 肘关节过伸
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0011170
hpo_term: Generalized myoclonic-atonic seizure
chpo_term: 全面性肌阵挛-失张力发作
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0410170
hpo_term: Hippocampal atrophy
chpo_term: 海马萎缩
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0400005
hpo_term: Short ear
chpo_term: 短耳
id: HP:0007015
hpo_term: Poor gross motor coordination
chpo_term: 粗大运动协调差
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌