Disease (OMIM:607459):
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003434
hpo_term: Sensory ataxic neuropathy
chpo_term: 感觉性共济失调性神经病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
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:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0033685
hpo_term: Fiber type grouping
chpo_term: 纤维类型分组
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
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:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
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:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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: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:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
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:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007344
hpo_term: Atrophy/Degeneration involving the spinal cord
chpo_term: 脊髓萎缩/退化
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
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:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹