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ENMegalencephalic Leukoencephalopathy with Subcortical Cysts 1 (MLC1)
Alias:
Van Der Knaap Disease
Leukoencephalopathy with Swelling and Cysts
Mlc1
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts
Lvm
Vl
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, Type 1
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1
Megalencephalic Leukoencephalopathy with Subcortical Cysts
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Megalencephalic Leukoencephalopathy with Subcortical Cysts 1, also known as van der knaap disease, is related to aceruloplasminemia and leukodystrophy, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 is MLC1 (Modulator Of VRAC Current 1). Affiliated tissues include brain and skeletal muscle, and related phenotypes are macrocephaly and seizure
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MALACARDS
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