Disease (OMIM:610443):
Koolen-De Vries syndrome
KOOLEN-DE VRIES SYNDROME

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:0005656
hpo_term: Positional foot deformity
chpo_term: 位置性足畸形
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004283
hpo_term: Narrow palm
chpo_term: 手掌狭窄
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100024
hpo_term: Conspicuously happy disposition
chpo_term: 显着快乐的性格
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000447
hpo_term: Pear-shaped nose
chpo_term: 梨形鼻
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0040080
hpo_term: Anteverted ears
chpo_term: 前倾耳
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:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
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:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0011822
hpo_term: Broad chin
chpo_term: 宽下巴
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0006006
hpo_term: Hypotrophy of the small hand muscles
chpo_term: 手部小肌肉发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长