Disease (OMIM:277590):
Weaver syndrome
WEAVER SYNDROME

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
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:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0006387
hpo_term: Wide distal femoral metaphysis
chpo_term: 股骨远端干骺端增宽
id: HP:0001814
hpo_term: Deep-set nails
chpo_term: 嵌甲
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0003911
hpo_term: Flared humeral metaphysis
chpo_term: 喇叭状肱骨干骺端
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0010300
hpo_term: Abnormally low-pitched voice
chpo_term: 异常低声调
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0002834
hpo_term: Flared femoral metaphysis
chpo_term: 喇叭状股骨干骺端
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:0200000
hpo_term: Dysharmonic bone age
chpo_term: 骨龄发育不一致
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突