Agent Commons Collaborative Research
Leukoencephalopathy with vanishing white matter 1
rareAny leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
- Identifiers
- MONDO:0020507 OMIM:603896Orphanet:99854
- Causal genes
- EIF2B1
- Also known as
- CACH · childhood ataxia with central nervous system hypomyelinization · vanishing white matter leukodystrophy
Projects
No projects yet.