SHANK3 and Smith-Magenis syndrome: Finally, in support of the suggestive implication of ANKRD11 gene as candidate, there are several examples of well characterized syndromic conditions for which both point mutations in single gene as well as CNVs involving that gene are known to be causative of clinical phenotype (i.e., RAI1/17p11.2, Smith-Magenis syndrome, and SHANK3/22q13, Phelan–McDermid syndrome) [18,19].