Disease (ORPHA:500150):
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002538
hpo_term: Abnormal cerebral cortex morphology
chpo_term: 大脑皮层形态异常
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0004433
hpo_term: Secretory IgA deficiency
chpo_term: 分泌型IgA缺乏症
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005639
hpo_term: Hyperextensible hand joints
chpo_term: 手关节背伸过度
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0007100
hpo_term: Progressive ventriculomegaly
chpo_term: 渐进性脑室扩大
id: HP:0007933
hpo_term: Broad lateral eyebrow
chpo_term: 宽侧眉
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0010485
hpo_term: Hyperextensibility at elbow
chpo_term: 肘关节过伸
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011648
hpo_term: Patent ductus arteriosus after birth at term
chpo_term: 足月儿动脉导管未闭
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0012582
hpo_term: Bilateral renal dysplasia
chpo_term: 双侧肾发育不良
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0030707
hpo_term: Unilateral lung agenesis
chpo_term: 单侧肺缺如
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100307
hpo_term: Cerebellar hemisphere hypoplasia
chpo_term: 小脑半球发育不全
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0430021
hpo_term: Abnormal common carotid artery morphology
chpo_term: 颈总动脉形态异常