Here, we report the case of a 19-day-old neonate presumptively diagnosed with PHA with two novel frameshift mutations in SCNN1B (c.1290delA and c.1348_1361del), which resulted in premature amino acid synthesis termination (p.Gln431ArgfsTer2 and p.Thr451AspfsTer6) by both two chromosomes. Here, SCNN1B is linked to Pelger-Huet anomaly.