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). The gene discussed is BBS4; the disease is genitopatellar syndrome.