Search Ontology:
Human Disease
leukoencephalopathy with vanishing white matter
- Term ID
- DOID:0060868
- 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. (4)
- References
-
- GARD:231
- ICD10CM:E75.2
- MIM:PS603896
- ORDO:135
- ORDO:157713
- ORDO:157716
- ORDO:157719
- Ontology
- Human Disease ( DOID:0060868 )
- is a type of
-
- has subtype
-
Other Pages
Genes Involved
Zebrafish Models