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2025-06-27 - 伴有退化、运动异常、失语和癫痫发作的Nedamss神经发育障碍(Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures)是一种罕见的神经发育疾病,表现为逐步退化的认知...
2025-06-27 - 伴有耳聋、智力迟钝和感觉大髓神经纤维缺失的遗传性运动和感觉神经病(Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers)是一种复杂的遗传性神经...