label: Leukoencephalopathy with Ataxia
label_lc: leukoencephalopathy with ataxia
description: An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.