Herein, limb anomalies such as brachydactyly, polydactyly, or camptodactyly are frequently detected in patients carrying genomic alterations in the HUWE1, TRAF7, UBE3B, ITCH, or FBXW11 genes (Buntinx and Majewski, 1990; Lohr et al., 2010; Moortgat et al., 2018; Tokita et al., 2018; Holt et al., 2019), while gonadal dysfunction seems to be restricted to a subset of NDD cases carrying variants of the RNF216, STUB1, TRIM37, or KLHL15 genes (Seminara et al., 2002; Jagiello et al., 2003; Heimdal et al., 2014; Mignon-Ravix et al., 2014). The gene discussed is ITCH; the disease is Neurodevelopmental delay.