Disease (ORPHA:96121):
Dup(7)(q11.23)
7q11.23 microduplication syndrome
Trisomy 7q11.23

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0009929
hpo_term: Abnormality of the columella
chpo_term: 鼻小柱异常
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000753
hpo_term: Autism with high cognitive abilities
chpo_term: 具有高认知能力的自闭症
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004768
hpo_term: Sparse anterior scalp hair
chpo_term: 前发稀疏
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0011333
hpo_term: Asymmetric crying face
chpo_term: 不对称哭容
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0008655
hpo_term: Aplasia/Hypoplasia of the fallopian tube
chpo_term: 输卵管发育不全/发育不良
id: HP:0008684
hpo_term: Aplasia/hypoplasia of the uterus
chpo_term: 子宫发育不全/发育不良
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0030212
hpo_term: Collectionism
chpo_term: 收藏癖
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指