Several clinical papers on NGLY1-deficient patients have been published and report that the typical clinical features of NGLY1 deficiency include developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficit and movement disorders that can include chorea, athetosis, dystonia, myoclonia, tremor and dysmetria (6–9,12,13). Here, NGLY1 is linked to Global developmental delay.