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Summary Literature (0)
DOID:0060868 - leukoencephalopathy with vanishing white matter

Disease Ontology 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, CLE, Cree leukoencephalopathy, childhood ataxia with central nervous system hypomyelination, ovarioleukodystrophy, vanishing white matter leukodystrophy,

Xenbase Genes : eif2b3, eif2b1, eif2b2, eif2b5, eif2b4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011380 - obsolete leukoencephalopathy with vanishing white matter


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), leukodystrophy (is_a)