Disease (OMIM:309500):
Renpenning syndrome
RENPENNING SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0009640
hpo_term: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
chpo_term: 拇指近节指骨与第一掌骨骨性连合
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001786
hpo_term: Narrow foot
chpo_term: 窄足
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌