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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: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