While it has long been recognized that triplet repeat and single gene disorders, such as Fragile X or SHANK2, and more recently copy number variation disorders, such as 16p11.2 deletion, are associated with neurodevelopmental conditions; there has also been substantial interest in whether a cumulative burden of rare single nucleotide variants, either inherited or de novo, can result in a clinical condition such as ASD or SPD. Here, SHANK2 is linked to Platelet storage pool disease.