Similarly, our patient 17-3959 with a homozygous truncating variant in TXNRD2 had a syndromic manifestation characterized by low cortisol, intellectual disability, epilepsy, dysmorphic features, truncus arteriosus, and omphalocele (Fig. 2), unlike isolated glucocorticoid deficiency that was reported in OMIM. The gene discussed is TXNRD2; the disease is epilepsy.