Disease (OMIM:610759):
CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Cornelia de Lange syndrome 3

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0030820
hpo_term: Hooded eyelid
chpo_term: 眼睑悬垂
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:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010750
hpo_term: Dermatochalasis
chpo_term: 眼皮松弛
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
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:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0007665
hpo_term: Curly eyelashes
chpo_term: 睫毛卷翘
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0011230
hpo_term: Laterally extended eyebrow
chpo_term: 横向延伸眉
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视