These deletions do not include HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 or FAM120C. Subjects 1–4 have a common constellation of findings which includes developmental delay, intellectual disability, hypotonia, joint hypermobility and relative macrocephaly. The gene discussed is TSPYL2; the disease is Intellectual disability.