Genomic variants of CASK have been linked to neurodevelopmental disorders [16], including mental retardation with or without nystagmus [17, 18], Otahara syndrome [19], infantile spasms [20, 21], mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [22, 23], and FG syndrome 4 [24, 25]. The gene discussed is CASK; the disease is neurodevelopmental disorder.