Conditions / Genetic
leukoencephalopathy with vanishing white matter 2
info · Genetic
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.
Signs and symptoms
- Premature ovarian insufficiency
- Memory impairment
- Cataract
- Secondary amenorrhea
- Lower limb muscle weakness
- Leukoencephalopathy
- Unsteady gait
- Spasticity
- Dysarthria
- Optic atrophy