Disease (OMIM:618443):
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
Neurodevelopmental disorder with or without variable brain abnormalities

Associated phenotypes (HPO):
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0040183
hpo_term: Encopresis
chpo_term: 大便失禁
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌