1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070373 | leukoencephalopathy with vanishing white matter 2 | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0060868 | leukoencephalopathy with vanishing white matter | 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. |