Disease (OMIM:301056):
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0025024
hpo_term: Megarectum
chpo_term: 巨直肠
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0100507
hpo_term: Reduced blood folate concentration
chpo_term: 叶酸缺乏症
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾