Among the top thirteen hits yielding this best enrichment statistic, we recapitulated five known diagnoses (i.e., NEUROG3, PAH, COX20, NDUFAF8, PRDX3)53,54 and newly identified the genomic cause of a known biochemical diagnosis (i.e., ACADM in a patient with MCAD deficiency). This evidence concerns the gene COX20 and hyperinsulinemic hypoglycemia, familial, 4.