DHRS3 and hyperinsulinemic hypoglycemia, familial, 4: Without evidence from additional individuals homozygous at p.(Glu244Gln), we are unable to determine whether this patient has a severe manifestation of DHRS3 deficiency or alternatively has a blended phenotype owing to additional undefined pathology (for example, related to 1 or more of the candidate homozygous variants listed in Supplemental Table 5).