Disease (OMIM:300868):
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0031145
hpo_term: Starry sky appearance on hepatic sonography
chpo_term: 肝脏满天星样改变
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0006994
hpo_term: Diffuse leukoencephalopathy
chpo_term: 弥漫性脑白质病
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0030515
hpo_term: Moderately reduced visual acuity
chpo_term: 中度视力降低
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
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:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011168
hpo_term: Focal seizure with eyelid myoclonia
chpo_term: 局灶性癫痫伴眼睑肌阵挛
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0011952
hpo_term: Acute aspiration pneumonia
chpo_term: 急性吸入性肺炎
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0040130
hpo_term: Abnormal serum iron concentration
chpo_term: 血清铁异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012001
hpo_term: EEG with generalized polyspikes
chpo_term: 脑电图，广泛性多棘波
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0012103
hpo_term: Abnormality of the mitochondrion
chpo_term: 线粒体异常
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0040134
hpo_term: Abnormal hepatic iron concentration
chpo_term: 肝脏铁浓度异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001341
hpo_term: Olfactory lobe agenesis
chpo_term: 嗅叶不发育
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0030903
hpo_term: Grasp reflex
chpo_term: 抓握反射/握持反射
id: HP:0011129
hpo_term: Bilateral fetal pyelectasis
chpo_term: 胎儿双侧肾盂扩张
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0100538
hpo_term: Abnormality of the supraorbital ridges
chpo_term: 眶上嵴异常
id: HP:0025404
hpo_term: Abnormal visual fixation
chpo_term: 注视异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003517
hpo_term: Birth length greater than 97th percentile
chpo_term: 出生身长大于97百分位数
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
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:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012429
hpo_term: Aplasia/Hypoplasia of the cerebral white matter
chpo_term: 脑白质发育缺陷/发育不全
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
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:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0007190
hpo_term: Neuronal loss in the cerebral cortex
chpo_term: 大脑皮质中神经元损失
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000207
hpo_term: Triangular mouth
chpo_term: 三角嘴
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002056
hpo_term: Abnormality of the glabella
chpo_term: 眉间异常
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视