To exclude important differential diagnoses, we searched the ES and lrWGS data for variants in genes associated with hyperferritinemia-cataract syndrome (OMIM 600886), transient neonatal hypertriglyceridemia (OMIM 138420), dyslipoproteinemic corneal dystrophy (OMIM 136120), and mevalonic aciduria (OMIM 610377): FTL, GPD1, LCAT, and MVK, respectively. Here, GPD1 is linked to hereditary hyperferritinemia with congenital cataracts.