Disease (ORPHA:33069):
Severe myoclonus epilepsy of infancy
Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy

Associated phenotypes (HPO):
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000466
hpo_term: Limited neck range of motion
chpo_term: 颈部运动范围受限
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001327
hpo_term: Photosensitive myoclonic seizure
chpo_term: 光敏性肌阵挛发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
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:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0007207
hpo_term: Photosensitive tonic-clonic seizure
chpo_term: 光敏性强直阵挛发作
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0011172
hpo_term: Complex febrile seizure
chpo_term: 复杂性高热惊厥
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0011468
hpo_term: Facial tics
chpo_term: 面部抽动
id: HP:0012847
hpo_term: Epilepsia partialis continua
chpo_term: 部分性癫痫发作持续状态
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0025101
hpo_term: Dysgenesis of the hippocampus
chpo_term: 海马回发育不全
id: HP:0031475
hpo_term: Status epilepticus without prominent motor symptoms
chpo_term: 非惊厥性癫痫持续状态
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0200048
hpo_term: Cyanotic episode
chpo_term: 紫绀发作
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作