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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models