Disease (OMIM:220111):
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0010883
hpo_term: Aortic valve atresia
chpo_term: 主动脉瓣闭锁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
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:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0033379
hpo_term: Bilateral superior vena cava
chpo_term: 双侧上腔静脉
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0004898
hpo_term: Persistent lactic acidosis
chpo_term: 持续性乳酸酸中毒
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
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:0006565
hpo_term: Increased hepatocellular lipid droplets
chpo_term: 肝细胞内脂滴增加
id: HP:0004900
hpo_term: Severe lactic acidosis
chpo_term: 重度乳酸酸中毒
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式