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Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540· ICD-10 E75.2

Definition

A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
All ages