Disease (OMIM:278250):
Wrinkly skin syndrome
WRINKLY SKIN SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
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:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
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:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0011995
hpo_term: Atrial septal dilatation
chpo_term: 房间隔扩张
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0007414
hpo_term: Neonatal wrinkled skin of hands and feet
chpo_term: 新生儿手足皱褶
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾