Recessive loss-of-function mutations in the evolutionarily conserved gene NGLY1 result in an ultra-rare genetic disease called NGLY1 Deficiency, which is characterized by global developmental delay, seizures, small head and extremities, chronic constipation, lack of tears, and floppy body (Enns et al. 2014). The gene discussed is NGLY1; the disease is hyperinsulinemic hypoglycemia, familial, 4.