These include cerebral adrenoleukodystrophy (CALD), metachromatic leukodystrophy (MLD), Tay-Sachs/Sandhoff disease, Angelman syndrome (AS), SYNGAP1, and mucopolysaccharidoses (MPS) (Biffi A. et al., 2013; Beegle J. et al., 2020; Adhikari A. et al., 2021; Tucci F. et al., 2021; Eichler F. et al., 2017; Larkin, 2022; Fraldi A. et al., 2018; Penati R. et al., 2017; Anderson JS. This evidence concerns the gene SYNGAP1 and metachromatic leukodystrophy.