| Metadata | |
|---|---|
| ID | DOID:0070372 |
| Name | leukoencephalopathy with vanishing white matter 3 |
| Definition | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/34745209/, https://www.omim.org/entry/620313 |
| Xrefs | |
| SKOS |
exactMatch MIM:620313 |
| Parent Relationships |