Disease (ORPHA:477817):
PMP22-RAI1 contiguous gene duplication syndrome
Yuan-Harel-Lupski syndrome
Dup(17)(p11.2p12)
Trisomy 17p11.2p12
Trisomy 17p11.2-p12
17p11.2p12 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
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:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻