Disease (ORPHA:508488):
8q24.3 microdeletion syndrome
Del(8)(q24.3)
Monosomy 8q24.3
Deletion 8q24.3

Associated phenotypes (HPO):
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0010733
hpo_term: Naevus flammeus of the eyelid
chpo_term: 眼睑鲜红斑痣
id: HP:0011067
hpo_term: Mesiodens
chpo_term: 正中多生牙
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011332
hpo_term: Hemifacial hypoplasia
chpo_term: 面肌发育不全
id: HP:0011406
hpo_term: Infancy onset short-trunk short stature
chpo_term: 婴儿发病的短躯干矮小症
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0012584
hpo_term: Bilateral renal hypoplasia
chpo_term: 双侧肾发育不良
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:3000038
hpo_term: Abnormal cricoid cartilage morphology
chpo_term: 环状软骨形态异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010722
hpo_term: Asymmetry of the ears
chpo_term: 耳朵不对称
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000744
hpo_term: Low frustration tolerance
chpo_term: 低挫折承受力
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0005176
hpo_term: Dysplastic aortic valve
chpo_term: 主动脉瓣发育不良
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0010289
hpo_term: Cleft of alveolar ridge of maxilla
chpo_term: 上颌牙槽嵴裂