Disease (ORPHA:435638):
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
3p25.3 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010663
hpo_term: Abnormality of thalamus morphology
chpo_term: 丘脑形态异常
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）