Leukoencephalopathy

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Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540Disease

What it is

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.

Key facts

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

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

CLCN2Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

E75.2filed under a broader ICD-10 category — shared with 67 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0014292OMIM 615651UMLS C4554120

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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