Disease (OMIM:612940):
Cutis laxa, autosomal recessive, type IIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB

Associated phenotypes (HPO):
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0034273
hpo_term: Premature sagging cheeks
chpo_term: 早熟面颊下垂
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:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
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:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0004948
hpo_term: Vascular tortuosity
chpo_term: 血管迂曲
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨