Disease (ORPHA:457279):
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000744
hpo_term: Low frustration tolerance
chpo_term: 低挫折承受力
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
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:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0011937
hpo_term: Hypoplastic fifth toenail
chpo_term: 第5趾甲发育不良
id: HP:0100350
hpo_term: Contracture of the proximal interphalangeal joint of the 4th toe
chpo_term: 第四趾近端趾间关节挛缩