Disease (OMIM:619475):
Developmental delay, impaired speech, and behavioral abnormalities
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0025386
hpo_term: Bitemporal hollowing
chpo_term: 双侧颞骨塌陷
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001574
hpo_term: Abnormality of the integument
chpo_term: 体壁的异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0100767
hpo_term: Abnormal placenta morphology
chpo_term: 胎盘异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0030185
hpo_term: Isometric tremor
chpo_term: 等轴性震颤
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0032408
hpo_term: Breast mass
chpo_term: 乳腺肿块
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0010674
hpo_term: Abnormality of the curvature of the vertebral column
chpo_term: 脊柱曲度异常
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0008760
hpo_term: Violent behavior
chpo_term: 暴力行为
id: HP:0008762
hpo_term: Repetitive compulsive behavior
chpo_term: 重复强迫行为
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0012446
hpo_term: Decreased CSF 5-methyltetrahydrofolate concentration
chpo_term: 脑脊液5-甲基四氢叶酸降低
id: HP:0008071
hpo_term: Maternal hypertension
chpo_term: 妊娠期高血压疾病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0008751
hpo_term: Laryngeal cleft
chpo_term: 喉裂
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0025232
hpo_term: Bursitis
chpo_term: 滑囊炎
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
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:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0010812
hpo_term: Short uvula
chpo_term: 悬雍垂短小
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
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:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0012498
hpo_term: Nuchal cord
chpo_term: 脐带绕颈
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0009884
hpo_term: Tapered distal phalanges of finger
chpo_term: 锥形末节指骨
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0000152
hpo_term: Abnormality of head or neck
chpo_term: 头颈部异常
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖