Disease (OMIM:256520):
Neu-Laxova syndrome 1
NEU-LAXOVA SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0007525
hpo_term: Yellow subcutaneous tissue covered by thin, scaly skin
chpo_term: 由薄层鳞状皮肤覆盖的黄色皮下组织
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002190
hpo_term: Choroid plexus cyst
chpo_term: 脉络丛囊肿
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0006266
hpo_term: Small placenta
chpo_term: 小胎盘
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001196
hpo_term: Short umbilical cord
chpo_term: 脐带过短
id: HP:0031244
hpo_term: Swollen lip
chpo_term: 嘴唇肿大
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011224
hpo_term: Ablepharon
chpo_term: 无睑畸形
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如