PLOD3 and hydrops fetalis: The heterozygous PLOD3 Y630X variant identified in the proband is an extremely rare variant with an allele frequency of 0.0000199 identified in 5 of 251,218 alleles in the Genome Aggregation Database (gnomAD database),57 thereby suggesting that the pathologic effect of the combined genetic variants shown in this study does not necessarily have global implications for other BMD carriers with advanced HF.