Disease (OMIM:206700):
Gillespie syndrome
GILLESPIE SYNDROME

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0030011
hpo_term: Imperforate hymen
chpo_term: 处女膜闭锁
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:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
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:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0007928
hpo_term: Abnormal flash visual evoked potentials
chpo_term: 闪光视觉诱发电位异常
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0009751
hpo_term: Aplasia of the pectoralis major muscle
chpo_term: 胸大肌发育不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失