Disease (OMIM:620771):
Jeffries-Lakhani neurodevelopmental syndrome
JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0012466
hpo_term: Chronic respiratory acidosis
chpo_term: 慢性呼吸性酸中毒
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0031728
hpo_term: Mild hypermetropia
chpo_term: 轻度远视
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0020152
hpo_term: Distal joint laxity
chpo_term: 远端关节松弛
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012523
hpo_term: Oral aversion
chpo_term: 口服厌恶
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0400000
hpo_term: Tall chin
chpo_term: 高下巴
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症