Disease (OMIM:194190):
Wolf-Hirschhorn syndrome
WOLF-HIRSCHHORN SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0004484
hpo_term: Craniofacial asymmetry
chpo_term: 颅面不对称
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0001812
hpo_term: Hyperconvex fingernails
chpo_term: 指甲异常凸起
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
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:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
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:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000188
hpo_term: Short upper lip
chpo_term: 上唇短小
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
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:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0006655
hpo_term: Rib segmentation abnormalities
chpo_term: 肋骨分节异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0004794
hpo_term: Malrotation of small bowel
chpo_term: 小肠旋转不良
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:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0009193
hpo_term: Pseudoepiphyses of the metacarpals
chpo_term: 掌骨假骨骺
id: HP:0011863
hpo_term: Abnormal sternal ossification
chpo_term: 胸骨骨化异常
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷