学因网基因：CHRND；
与CHRND基因相关的CHPO中文疾病症状表型：腱反射减低,呼吸衰竭,眼肌瘫痪,限制性肺疾病,肌电图:复合肌肉动作电位对神经重复刺激的递减反应,胸椎后侧凸,肱三头肌无力,易疲劳性,肩胛带肌肉无力,肺活量减少,微终板电位降低,高腭,1型肌纤维优势,粗大运动发育迟缓,咀嚼肌异常,颈屈肌无力,紫绀,呼吸肌疲劳性无力,神经终板缩小,复视,伸指长肌无力,面部神经麻痹,上睑下垂,中指伸肌无力,劳力性呼吸困难,肌萎缩,踝关节无力,EMG:肌病样异常,端坐式呼吸,困倦,屈髋无力,颈部肌肉疲劳性无力；
与CHRND基因相关的HPO英文疾病症状表型：Reduced tendon reflexes,Respiratory failure,Ophthalmoparesis,Restrictive ventilatory defect,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Thoracic kyphoscoliosis,Triceps weakness,Easy fatigability,Shoulder girdle muscle weakness,Reduced vital capacity,Decreased miniature endplate potentials,High palate,Type 1 muscle fiber predominance,Delayed gross motor development,Abnormality of masticatory muscle,Neck flexor weakness,Cyanosis,Fatigable weakness of respiratory muscles,Decreased size of nerve terminals,Diplopia,Weakness of the intrinsic hand muscles,Facial palsy,Ptosis,Weakness of long finger extensor muscles,Exertional dyspnea,Skeletal muscle atrophy,Ankle weakness,EMG: myopathic abnormalities,Orthopnea,Drowsiness,Hip flexor weakness,Fatigable weakness of neck muscles；
HPO相关编号:HP:0001315,HP:0002878,HP:0000597,HP:0002091,HP:0003403,HP:0005659,HP:0031108,HP:0003388,HP:0003547,HP:0002792,HP:0003402,HP:0000218,HP:0003803,HP:0002194,HP:0410011,HP:0003722,HP:0000961,HP:0030196,HP:0003443,HP:0000651,HP:0009005,HP:0010628,HP:0000508,HP:0009077,HP:0002875,HP:0003202,HP:0031374,HP:0003458,HP:0012764,HP:0002329,HP:0012515,HP:0030199；
相关病症数据库编号：ORPHA:98913；
相关病症中文名：；
相关病症英文名：；
*遗传方式：；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因CHRND往往会有以下的表型：腱反射减低,呼吸衰竭,眼肌瘫痪,限制性肺疾病,肌电图:复合肌肉动作电位对神经重复刺激的递减反应,胸椎后侧凸,肱三头肌无力,易疲劳性,肩胛带肌肉无力,肺活量减少,微终板电位降低,高腭,1型肌纤维优势,粗大运动发育迟缓,咀嚼肌异常,颈屈肌无力,紫绀,呼吸肌疲劳性无力,神经终板缩小,复视,伸指长肌无力,面部神经麻痹,上睑下垂,中指伸肌无力,劳力性呼吸困难,肌萎缩,踝关节无力,EMG:肌病样异常,端坐式呼吸,困倦,屈髋无力,颈部肌肉疲劳性无力。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该进行致病基因CHRND的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
