Fig. (2).

RAI1 changes associated with neurobehavioral phenotypes. The traits that have been found related to RAI1 CNVs, mutations or sequence changes are summarized. There are phenotypes that are associated with only one copy of RAI1 gene (SMS). Many of these phenotypes are also related to carrying two copies of the gene, but one allele with mutations (SMS caused by frameshifts, nonsense or missense mutations) ^(a). Harboring two copies of RAI1 gene but with polymorphic CAG repeats influence other neurobehavioral traits ^(b). The alteration of RAI1 dosage to three copies causes specific phenotypes of PTLS as well as features that overlap with some clinical characteristics of SMS.