Monies et al. (2017) analyzed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 4-year-old male, presented with global developmental and speech delay, hypotonia, seizures, ptosis, optic disc edema, hypoplastic left heart, ureteropelvic junction obstruction, hydronephrosis and dysmorphic features. After a neuro-panel failed to identify a mutation, WES was carried out and a heterozygous mutation (c.4256delG, p.C1419fs) was detected in exon 18 of the patient’s DMXL1 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene had been implicated in the pathogenesis of 5q22.3q23.3 microdeletion syndrome. The authors noted the need for further confirmation of this association.