The other OMIM disease‐associated genes located in the deletion found in our patient include IDS (mucopolysaccharidosis type 2, MPS2) (Johnson, van Diggelen, Dajnoki, & Bodamer, 2013), SOX3 (related to pituitary development) (Rizzoti et al., 2004), FMR1 (Fragile‐X syndrome), and AFF2 (FRAXE syndrome) (Cordts, Christofolini, Dos Santos, Bianco, & Barbosa, 2011; Moore et al., 1999). The gene discussed is SOX3; the disease is mucopolysaccharidosis type 2.