Disease (OMIM:613458):
CHROMOSOME 16p13.3 DUPLICATION SYNDROME
Chromosome 16p13.3 duplication syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0004635
hpo_term: Cervical C5/C6 vertebrae fusion
chpo_term: 颈椎C5/C6椎骨融合
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011926
hpo_term: Proximal placement of hallux
chpo_term: 大拇趾近端异位
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
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:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾