Molecular methods using whole exome sequencing and whole genome sequencing is preferred for diagnosis. To date only a single variant have been associated with pathogenesis. The variant was identified in two Saudi siblings using whole exome sequencing (WES). WES revealed a missense variant that might be the cause of the disease pathogenesis in both sibs. The siblings are both homozygous for the missense variant] [c.3611T>G; p.(Phe1204Cys)] in the KIF16B gene, which is located in the PX domain.