SHANK family proteins are encoded by three genes, namely Shank1, Shank2, and Shank3. To begin, observations highlighting the importance of SHANK in human health have been made in the context of Phelan McDermid syndrome (PMS), and genetic studies have identified SHANK3 haploinsufficiency as the cause of the disease [3–5]. The gene discussed is SHANK2; the disease is Monosomy 22q13.