Disease (OMIM:252010):
Mitochondrial complex I deficiency, nuclear type 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0004481
hpo_term: Progressive macrocephaly
chpo_term: 渐进性大头畸形
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0007965
hpo_term: Undetectable visual evoked potentials
chpo_term: 视觉诱发电位无波形
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0008160
hpo_term: 3-hydroxydicarboxylic aciduria
chpo_term: 3羟基二羧酸尿症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0005157
hpo_term: Concentric hypertrophic cardiomyopathy
chpo_term: 向心性肥厚型心肌病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012752
hpo_term: Focal T2 hypointense basal ganglia lesion
chpo_term: 基底节局灶性T2低信号病变
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0004900
hpo_term: Severe lactic acidosis
chpo_term: 重度乳酸酸中毒
id: HP:0006965
hpo_term: Acute necrotizing encephalopathy
chpo_term: 急性坏死性脑病