In contrast, a recent case of 7p22.3 deletion, which includes this region from MAD1L1 to SNX8, reported both neurodevelopmental delay and heart anomalies (Skvortsova et al., 2024), supporting the likely involvement of the MAD1L1-SNX8 region in cardiac development (but cannot exclude the possible role of SNX8 in neurodevelopment). The gene discussed is SNX8; the disease is Neurodevelopmental delay.