Disease (OMIM:182212):
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Shprintzen-Goldberg craniosynostosis syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
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: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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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: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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0008440
hpo_term: C1-C2 vertebral abnormality
chpo_term: C1-C2寰枢椎椎体异常
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0003717
hpo_term: Minimal subcutaneous fat
chpo_term: 最低限度的皮下脂肪
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
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:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤