Of the 15 GUSs encountered, two have recently become disease genes: particularly, PPP1R12A gene has been associated with Genitourinary and/or brain malformation syndrome (OMIM #618820) (Hughes et al., 2020), while SYNCRIP gene is implicated in a new neurodevelopmental disorder (Gillentine et al., 2021). This evidence concerns the gene SYNCRIP and neurodevelopmental disorder.