Second, the inclusion of phenotypes as many as possible in the analysis would increase the yield of diagnosis; in this case, although hypoglycemia is a main finding in HMGCS2 we did not include hypoglycemia in the initial analysis, given it was relatively nonspecific and related to poor feeding, and we simply focused on the more prominent abnormality (metabolic acidosis and hyperammonemia). Here, HMGCS2 is linked to Hyperammonemia.