Disease (OMIM:615471):
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0030059
hpo_term: Mitochondrial depletion
chpo_term: 线粒体DNA耗竭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0010602
hpo_term: Type 2 muscle fiber predominance
chpo_term: 2型肌纤维占优势
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0011925
hpo_term: Decreased activity of mitochondrial ATP synthase complex
chpo_term: 线粒体ATP合成酶复合物活性降低
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0040155
hpo_term: Elevated urinary 3-hydroxybutyric acid
chpo_term: 尿3-羟基丁酸水平升高
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
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:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
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:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
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:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
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:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
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:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011427
hpo_term: Enlarged fetal cisterna magna
chpo_term: 胎儿小脑延髓池扩大
id: HP:0034648
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症