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ENMegalencephalic 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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Megalencephalic Leukoencephalopathy with Subcortical Cysts, also known as vacuolating megalencephalic leukoencephalopathy with subcortical cysts, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a and megalencephalic leukoencephalopathy with subcortical cysts 1, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Modulator Of VRAC Current 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuroinflammation and glutamatergic signaling. Affiliated tissues include brain and cortex, and related phenotypes are homeostasis/metabolism and nervous system
Related ID：
MESH：C536141
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MALACARDS
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