Disease (OMIM:613406):
Witteveen-Kolk syndrome
WITTEVEEN-KOLK SYNDROME

Associated phenotypes (HPO):
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
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:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0040262
hpo_term: Glue ear
chpo_term: 胶耳
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0033052
hpo_term: Psychogenic non-epileptic seizure
chpo_term: 心因性非癫痫发作
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002275
hpo_term: Poor motor coordination
chpo_term: 运动不协调
id: HP:0100024
hpo_term: Conspicuously happy disposition
chpo_term: 显着快乐的性格
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0025646
hpo_term: Bilateral polymicrogyria
chpo_term: 双侧多小脑回
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0009275
hpo_term: Contracture of the distal interphalangeal joint of the 4th finger
chpo_term: 第四指的远端指间关节挛缩
id: HP:0009795
hpo_term: Branchial fistula
chpo_term: 鳃裂瘘管
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
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:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0010747
hpo_term: Medial flaring of the eyebrow
chpo_term: 眉中部发散扩展
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0011833
hpo_term: Overhanging nasal tip
chpo_term: 鼻尖悬垂
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0032077
hpo_term: Male urethral meatus stenosis
chpo_term: 男性尿道口狭窄
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖