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 spastic-dystonic tetraparesis, epilepsy, nystagmus and profound failure to thrive.
MRI showed hypomyelination, thinning of the corpus callosum, and progressive thalamic and cerebellar atrophy.
The prevalence of DEGS1-related leukodystrophy cannot be ascertained because of the limited number of cases identified to date.
DEGS1 is inherited in an autosomal recessive manner.