For Patients

Focused Rare Disease Syndromes

#English NameChinese NameMore Detail
1White matter malnutrition脑白质营养不良EN/中文
2X-linked myotubular myopathyX连锁肌小管性肌病EN/中文
3Leber hereditary optic neuropathyLeber遗传性视神经病变EN/中文
4Recessive hereditary ichthyosis隐性遗传性鱼鳞病EN/中文
5Duchenne muscular dystrophy杜氏肌营养不良氏肌营EN/中文
6Primary mitochondrial myopathy原发性线粒体肌病EN/中文
7Phenylketonuria苯丙酮尿症EN/中文
8Guillain-Barre Syndrome格林-巴利综合征EN/中文
9Growth hormone deficiency生长激素缺乏症EN/中文
10Multi system atrophy多系统萎缩EN/中文

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