Disruption of spliceosome components have been associated with several neurodevelopmental disorders involving craniofacial defects, for example Guion-Almeida type mandibulofacial dysostosis, Nager syndrome, and cerebrocostomandibular syndrome, which also display several overlapping features with SNIP1-related disorder including midface hypoplasia, cleft palate, developmental delay, intellectual disability, congenital cardiac defects and scoliosis [22]. This evidence concerns the gene SNIP1 and mandibulofacial dysostosis-microcephaly syndrome.