The genetic causes for Traboulsi syndrome are pleiotropic, but all affect the ASPH gene that encodes for the multidomain 2-oxoglutarate (2OG)- and Fe(II)-dependent oxygenase aspartate/asparagine-β-hydroxylase (AspH), as well as for C-terminally truncated AspH splice variants lacking the C-terminal 2OG oxygenase domain, e.g., junctate, junctin, and humbug (27, 28, 29, 30). This evidence concerns the gene ASPH and facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.