Disease (ORPHA:3041):
Intellectual disability-balding-patella luxation-acromicria syndrome
Scholte-Begeer-van Essen syndrome

Associated phenotypes (HPO):
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0008414
hpo_term: Lumbar kyphosis in infancy
chpo_term: 婴儿期腰椎后凸
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030044
hpo_term: Flexion contracture of digit
chpo_term: 指/趾屈曲挛缩
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002234
hpo_term: Early balding
chpo_term: 早期秃发
id: HP:0002292
hpo_term: Frontal balding
chpo_term: 前额秃发
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010499
hpo_term: Patellar subluxation
chpo_term: 髌骨半脱位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良