Disease

leukoencephalopathy with vanishing white matter

Definition

A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.

Synonyms

CACH
CACH/VWM

Cross References

Parent Terms

Child Terms

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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