Indeed, gain-of-function pathogenic variants in PTDSS1 coding PS synthase cause sclerosing bone dysplasia and intellectual disability (Lens-Majewski syndrome; OMIM # 151050), and pathogenic variants in PISD1 coding PS decarboxylase cause Spondyloepimetaphyseal dysplasias (31, 32). This evidence concerns the gene PTDSS1 and spondyloepimetaphyseal dysplasia.