Since the disorder was caused by pathologic mutations in the specific enzyme responsible for deglycosylation, the disease was named congenital disorder of deglycosylation (CDDG) or NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG; OMIM#615273). Here, NGLY1 is linked to Alacrimia-choreoathetosis-liver dysfunction syndrome.