We identified two novel heterozygous OTUD6B splicing mutations (c.324+1G>C and c.405+1G>A) in an Italian child with an intellectual disability syndrome, reinforcing the concept that mutations in genes encoding enzymes involved in regulating post-translational modifications play an important role in intellectual disability and related syndromes (Bustos et al., 2018). Here, OTUD6B is linked to Intellectual disability.