Intriguingly, the investigation led us to the discovery of four variants within known syndromic autism-related genes: IQSEC2 (c.1637G > A, p.Trp546Ter), FOXG1 (c.563 C > A, p.Ala188Glu), DMD (c.631T > A, p.Leu211Met), and CHKB (c.382G > T, p.Glu128Ter). The gene discussed is CHKB; the disease is autism.