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). The gene discussed is NGLY1; the disease is Dystonia.