| Metadata | |
|---|---|
| ID | DOID:0060868 |
| Name | leukoencephalopathy with vanishing white matter |
| 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. https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/, https://pubmed.ncbi.nlm.nih.gov/11835386/, https://pubmed.ncbi.nlm.nih.gov/15136673/, https://www.ncbi.nlm.nih.gov/pubmed/11704758 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CACH [EXACT] CACH/VWM [EXACT] childhood ataxia with central nervous system hypomyelination [EXACT] ovarioleukodystrophy [RELATED] vanishing white matter leukodystrophy [EXACT] |
| Parent Relationships |
is_a leukodystrophy |