Disease (OMIM:617616):
Skraban-Deardorff syndrome
SKRABAN-DEARDORFF SYNDROME

Associated phenotypes (HPO):
id: HP:0025186
hpo_term: Marcus Gunn jaw winking synkinesis
chpo_term: Marcus-Gunn下颌眼睑联动综合征
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0003194
hpo_term: Short nasal bridge
chpo_term: 短鼻梁
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010800
hpo_term: Absent cupid's bow
chpo_term: 上唇五丘比特弓
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009933
hpo_term: Narrow naris
chpo_term: 鼻孔狭窄
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
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: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:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012683
hpo_term: Pineal cyst
chpo_term: 松果体囊肿
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视