Since 2008, when both a heterozygous deletion and point mutations affecting CASK were reported to cause intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH, OMIM: #300749) [3, 4], various types of CASK aberrations have been reported in more than 50 MICPCH patients [5, 6]. The gene discussed is CASK; the disease is Intellectual disability.