Individuals with DEGS1-related leukodystrophy present a global developmental delay or developmental regression at 6-18 months, leading to mild to severe intellectual disability. They have limb rigidity, epilepsy, abnormal ocular movements and profound failure to thrive.
MRI show a reduced ability to form myelin (hypomyelination), thinning of the corpus callosum and progressive thalamic and cerebellar atrophy.
DEGS1