leukoencephalopathy with vanishing white matter 1

Rare Disease

MONDO:0020507

Also Known As

CACHchildhood ataxia with central nervous system hypomyelinizationvanishing white matter leukodystrophyCree leukoencephalopathy

Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

leukoencephalopathy, progressive, with ovarian failure

MONDO:0014387

congenital or early infantile CACH syndrome

MONDO:0015519

late infantile CACH syndrome

MONDO:0015520

juvenile or adult CACH syndrome

MONDO:0015521

leukoencephalopathy with vanishing white matter 2

MONDO:0957870

leukoencephalopathy with vanishing white matter 3

MONDO:0957871