Disease (ORPHA:3455):
Neonatal progeroid syndrome
Wiedemann-Rautenstrauch syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000292
hpo_term: Loss of facial adipose tissue
chpo_term: 面部脂肪组织丢失
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001043
hpo_term: Prominent scalp veins
chpo_term: 头皮静脉隆凸
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0004492
hpo_term: Widely patent fontanelles and sutures
chpo_term: 前囟及颅缝宽大
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0009059
hpo_term: Congenital generalized lipodystrophy
chpo_term: 先天性全身脂肪营养不良
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000267
hpo_term: Cranial asymmetry
chpo_term: 颅骨不对称
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0006470
hpo_term: Thin long bone diaphyses
chpo_term: 长骨骨干纤细
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0008476
hpo_term: Irregular sclerotic endplates
chpo_term: 不规则硬化终板
id: HP:0009003
hpo_term: Increased subcutaneous truncal adipose tissue
chpo_term: 躯干部皮下脂肪组织增多
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012811
hpo_term: Wide nasal ridge
chpo_term: 宽鼻嵴
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0003413
hpo_term: Atlantoaxial abnormality
chpo_term: 寰枢椎畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0008469
hpo_term: Cervical vertebral dysplasia
chpo_term: 颈椎发育不良
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0030265
hpo_term: Wide penis
chpo_term: 阴茎扁宽
id: HP:0100581
hpo_term: Dilatation of renal calices
chpo_term: 肾盏扩张
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0005164
hpo_term: Dysplastic pulmonary valve
chpo_term: 肺动脉瓣发育不良
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0025134
hpo_term: Increased serum estradiol
chpo_term: 血清雌二醇增多
id: HP:0030001
hpo_term: Lagopthalmos
chpo_term: 睑裂闭合不全
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0045017
hpo_term: Congenital malformation of the left heart
chpo_term: 先天性左心畸形