Case 1 exhibited homozygosity for this variant and potential XYY syndrome, while Case 2 carried a compound heterozygous mutation including a novel frameshift variant, NM_004453.4: c.265_266del (p. Gln89Valfs*6), and concurrent SLC25A13 mutation linked to adult-onset citrullinemia type II. Here, SLC25A13 is linked to citrullinemia type II.