Term Name: leukoencephalopathy with vanishing white matter
Synonyms: CACH, CACH/VWM, childhood ataxia with central nervous system hypomyelination, Cree leukoencephalopathy, ovarioleukodystrophy, 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.
Ontology: Human Disease [DOID:0060868]   ( DOID:0060868 )

Relationships
is a type of: autosomal recessive disease leukodystrophy
has subtype: leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 5