Disease (OMIM:619841):
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Chilton-Okur-Chung neurodevelopmental syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0010952
hpo_term: Mild fetal ventriculomegaly
chpo_term: 轻度胎儿脑室扩大
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0200085
hpo_term: Limb tremor
chpo_term: 肢体震颤
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0004704
hpo_term: Short fifth metatarsal
chpo_term: 第五跖骨过短
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100842
hpo_term: Septo-optic dysplasia
chpo_term: 透明隔-视神经发育不良
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
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:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
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:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0030820
hpo_term: Hooded eyelid
chpo_term: 眼睑悬垂
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011327
hpo_term: Posterior plagiocephaly
chpo_term: 后斜头畸形
id: HP:0012541
hpo_term: Cephalohematoma
chpo_term: 胎头血肿
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0001500
hpo_term: Broad finger
chpo_term: 宽指
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0032592
hpo_term: Aplasia of the right hemidiaphragm
chpo_term: 右侧膈肌未发育
id: HP:0006485
hpo_term: Agenesis of incisor
chpo_term: 切牙发育不全
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长