Leukoencephalopathy with Ataxia

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - CC2L - CLCN2-Related Leukoencephalopathy - LKPAT