Disease (OMIM:614527):
Chromosome 17q12 deletion syndrome
CHROMOSOME 17q12 DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0011856
hpo_term: Pica
chpo_term: 异食癖
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0031909
hpo_term: Unicornuate uterus
chpo_term: 单角子宫
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0003250
hpo_term: Aplasia of the vagina
chpo_term: 阴道发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005999
hpo_term: Ureteral atresia
chpo_term: 输尿管闭锁
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾