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中文Megalencephalic Leukoencephalopathy with Subcortical Cysts (LVM)
Alias:
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic Leukodystrophy
Mlc
Megalencephaly-Cystic Leukodystrophy Syndrome
Megalencephaly-Cystic Leukodystrophy
Van Der Knaap Syndrome
Van Der Knaap Disease
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome
Leukoencephalopathy with Swelling and a Discrepantly Mild Course
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts
Infantile Leukoencephalopathy and Megalencephaly
Leukoencephalopathy with Swelling and Cysts
Vacuolating Leukoencephalopathy
Lvm
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大脑巨脑白质营养不良伴皮质下囊肿，也称为囊性巨脑白质营养不良伴皮质下囊肿，与巨脑白质营养不良伴皮质下囊肿2a和巨脑白质营养不良伴皮质下囊肿1有关，症状包括共济失调、肌肉痉挛和癫痫发作。与大白质营养不良伴皮质下囊肿有关的重要基因是MLC1（VRAC电流调节因子1），其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和神经炎症和谷氨酸能信号转导。相关组织包括大脑和皮质，相关表型为稳态/代谢和神经系统。
Related ID：
MESH：C536141
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MALACARDS
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