NBAS and Pelger-Huet anomaly: It presents with a broad and variable clinical spectrum, including short stature with optic nerve atrophy and Pelger Huët anomaly (SOPH, OMIM #614800), infantile liver failure syndrome type 2 (ILFS2, OMIM #616483), and combined phenotypes of both SOPH and ILFS2 (Capo-Chichi et al., 2015; Segarra et al., 2015; Balasubram et al., 2017).