Disease (OMIM:616276):
Coenzyme Q10 deficiency, primary, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0025664
hpo_term: Moderate to late preterm birth
chpo_term: 中度到晚期早产
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0032278
hpo_term: 2-hydroxyglutarate aciduria
chpo_term: 2-羟基戊二酸尿症
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025722
hpo_term: Cerebral infarct
chpo_term: 脑梗死
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0034369
hpo_term: Decreased level of coenzyme Q10 in skeletal muscle
chpo_term: 骨骼肌辅酶Q10水平降低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高