leukoencephalopathy with vanishing white matter 4

A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.

Signs and symptoms

• Cerebral cortical atrophy
• Leukoencephalopathy
• Corpus callosum atrophy
• Optic atrophy
• Ventriculomegaly
• Spasticity
• Mild intellectual disability
• Delayed ability to walk
• Dysarthria
• Secondary amenorrhea