Disease (ORPHA:2995):
Baraitser-Winter cerebrofrontofacial syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012905
hpo_term: Euryblepharon
chpo_term: 睑外翻
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0030502
hpo_term: Retinoschisis
chpo_term: 视网膜劈裂症
id: HP:0100308
hpo_term: Cerebral cortical hemiatrophy
chpo_term: 大脑皮层偏侧萎缩
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0009942
hpo_term: Duplication of thumb phalanx
chpo_term: 拇指重复
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿