LBR and Pelger-Huet anomaly: In humans, heterozygous pathogenic variants in LBR (MIM: 600024) are associated with Pelger-Huët anomaly (MIM: 169400)19 and Reynolds syndrome (MIM: 613471),20 while bi-allelic variants are associated with Greenberg skeletal dysplasia (MIM: 215140)21 and rhizomelic skeletal dysplasia with or without Pelger-Huët anomaly (MIM: 618019).22