Disease (ORPHA:522077):
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0008762
hpo_term: Repetitive compulsive behavior
chpo_term: 重复强迫行为
id: HP:0025152
hpo_term: Poor visual behavior for age
chpo_term: 视觉行为发育差
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0004879
hpo_term: Intermittent hyperventilation
chpo_term: 间歇性过度通气
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0005876
hpo_term: Progressive flexion contractures
chpo_term: 进行性屈曲挛缩
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008138
hpo_term: Equinus calcaneus
chpo_term: 马蹄足畸形
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0011194
hpo_term: EEG with series of focal spikes
chpo_term: 脑电图，成簇局灶棘波
id: HP:0011196
hpo_term: EEG with focal sharp waves
chpo_term: 脑电图，局灶性尖波
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0011445
hpo_term: Athetoid cerebral palsy
chpo_term: 手足徐动型脑瘫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0025247
hpo_term: Dermoid cyst
chpo_term: 皮样囊肿
id: HP:0040296
hpo_term: Abnormal location of the eyebrow
chpo_term: 眉毛位置异常
id: HP:0100248
hpo_term: Hemiballismus
chpo_term: 偏侧投掷/偏侧投掷症