Degs1-related hypomyelinating leukodystrophy: four individuals from same family and review of literature.

ObjectivesDEGS1-related leukodystrophy has been described in 33 individuals to date with varying degrees of neurologic symptoms and atrophy/hypomyelination on MRI brain. We describe a family of 4 individuals with DEGS1-related leukodystrophy with phenotypic heterogeneity both within the family and in previously reported individuals.