Disease (ORPHA:438213):
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000549
hpo_term: Abnormal conjugate eye movement
chpo_term: 眼球共轭运动异常
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
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:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007193
hpo_term: Bilateral tonic-clonic seizure on awakening
chpo_term: 觉醒期双侧强直- 阵挛发作
id: HP:0007655
hpo_term: Eversion of lateral third of lower eyelids
chpo_term: 下眼睑外侧三分之一外翻
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0025313
hpo_term: Exophoria
chpo_term: 外隐斜
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0031622
hpo_term: Brown anomaly
chpo_term: Brown异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000139
hpo_term: Uterine prolapse
chpo_term: 子宫脱垂
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011747
hpo_term: Abnormality of the anterior pituitary
chpo_term: 垂体前叶异常
id: HP:0031253
hpo_term: Anomalous origin of left subclavian artery
chpo_term: 左锁骨下动脉异常起源
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降