Disease (OMIM:619950):
TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
Tessadori-van Haaften neurodevelopmental syndrome 3

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0031717
hpo_term: Alternating exotropia
chpo_term: 交替性外斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0012583
hpo_term: Unilateral renal hypoplasia
chpo_term: 单侧肾发育不良
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
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:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0500011
hpo_term: Moon facies
chpo_term: 满月脸
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0031624
hpo_term: Moderate myopia
chpo_term: 中度近视
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0025573
hpo_term: Mild myopia
chpo_term: 轻度近视
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0010877
hpo_term: Monocular strabismus
chpo_term: 单眼斜视
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突