Disease (OMIM:620423):
Multiple mitochondrial dysfunctions syndrome 7
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0500230
hpo_term: Increased CSF glycine concentration
chpo_term: 脑脊液甘氨酸浓度升高
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0032615
hpo_term: Abnormal diffusion weighted cerebral MRI morphology
chpo_term: 脑磁共振弥散加权成像异常形态
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0034893
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症