Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have been reported to cause two different clinical spectra: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome and infantile liver failure syndrome 2 (ILFS2). The gene discussed is NBAS; the disease is short stature-optic atrophy-Pelger-Huët anomaly syndrome.