The identified genetic abnormalities included a broad range of known genetic syndromes and mutations such as 10p deletion, Bardet–Biedel syndrome (BBS9 gene exon 17 homozygous deletion and BBS4 gene homozygous frameshift mutation c.210_213 del; p.(II70Metfs*5)), Bartter syndrome, Beckwith–Wiedemann syndrome, DiGeorge syndrome, Down syndrome, Fraser syndrome, Genitopatellar syndrome, Hajdu–Cheney syndrome, and Cornelia De Lange syndrome (Supplementary Table S1). This evidence concerns the gene BBS4 and Cornelia de Lange syndrome.