Disease (ORPHA:70472):
COX deficiency, French-Canadian type
Leigh syndrome, French-Canadian type
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0011203
hpo_term: EEG with abnormally slow frequencies
chpo_term: 伴异常缓慢频率的脑电图
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012243
hpo_term: Abnormal reproductive system morphology
chpo_term: 生殖系统形态异常
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常