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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
leukoencephalopathy with vanishing white matter
Summary
- Synonym
-
- CACH
- CACH/VWM
- childhood ataxia with central nervous system hypomyelination
- vanishing white matter leukodystrophy
- 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.
- Super Class
- autosomal recessive disease leukodystrophy
Related Genes
