Disease (OMIM:258450):
Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

Associated phenotypes (HPO):
id: HP:0003434
hpo_term: Sensory ataxic neuropathy
chpo_term: 感觉性共济失调性神经病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003548
hpo_term: Subsarcolemmal accumulations of abnormally shaped mitochondria
chpo_term: 肌膜下形态异常的线粒体沉积
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
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:0003689
hpo_term: Multiple mitochondrial DNA deletions
chpo_term: 线粒体DNA多处缺失
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常