WES Results & cDNA Analysis: WES identified a heterozygous variant in PEX6, c.1802G > A: p.(R601Q) previously associated with Heimler Syndrome, a mild peroxisomal biogenesis disorder (OMIM 616617) [11, 12]. Here, PEX6 is linked to Peroxisome biogenesis disorder-Zellweger syndrome spectrum.