Table 3.

Summary of features in reported NGLY1‐CDDG patients

Feature	N	%
c.1201A>T (p.R401X) variant on at least one allele	15/54	28
Global developmental disability	27/27	100
Hyperkinetic movement disorder	23/25	92
Hypolacrima or alacrima	24/26	92
Elevated serum transaminases	20/25	80
Biochemical diagnosis based on urinary or DBS marker	4/27	15

Abbreviation: DBS, dried blood spot.