Conditions / Genetic
leukoencephalopathy with vanishing white matter 3
info · Genetic
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.
Signs and symptoms
- Hemianopia
- Leukoencephalopathy
- Secondary amenorrhea
- Lower limb muscle weakness
- Loss of ambulation
- Seizure
- Dysarthria