In the case of patient 6, however, the dual molecular diagnosis of homozygous pathogenic variants in EPCAM and BEST1 did not correspond to a hybrid phenotype because her only presentation was diarrhea as part of EPCAM-related tufting enteropathy (OMIM# 613217). Here, BEST1 is linked to congenital diarrhea 5 with tufting enteropathy.