Disease (OMIM:203700):
Mitochondrial DNA depletion syndrome 4A (Alpers type)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0012072
hpo_term: Aciduria
chpo_term: 酸性尿
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
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:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012847
hpo_term: Epilepsia partialis continua
chpo_term: 部分性癫痫发作持续状态
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
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:0032860
hpo_term: Generalized non-convulsive status epilepticus without coma
chpo_term: 不伴意识障碍的全面性非惊厥癫痫持续状态
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0003219
hpo_term: Ethylmalonic aciduria
chpo_term: 乙基丙二酸尿症
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0006964
hpo_term: Cerebral cortical neurodegeneration
chpo_term: 大脑皮层神经变性
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖