| 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://pubmed.ncbi.nlm.nih.gov/11835386/, https://www.ncbi.nlm.nih.gov/pubmed/11704758, https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/, https://pubmed.ncbi.nlm.nih.gov/15136673/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:157713 narrowMatch ORDO:157716 narrowMatch ORDO:157719 |
| 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 |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |