Disease (OMIM:260660):
COUSIN SYNDROME
Cousin syndrome

Associated phenotypes (HPO):
id: HP:0009937
hpo_term: Facial hirsutism
chpo_term: 面部多毛症
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0011266
hpo_term: Microtia, first degree
chpo_term: 小耳畸形，1级
id: HP:0006077
hpo_term: Absent proximal finger flexion creases
chpo_term: 手指近端屈曲褶痕缺如
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
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:0008488
hpo_term: Anterior rounding of vertebral bodies
chpo_term: 椎体前侧变圆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0008472
hpo_term: Prominent protruding coccyx
chpo_term: 尾骨突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002324
hpo_term: Hydranencephaly
chpo_term: 积水型无脑畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌