Overall, some of the genes identified in the ten patients harbouring MAMLD1 variants were previously reported to be associated with specific syndromes in patients with genitourinary anomalies: RET was shown to be associated with congenital anomalies of the kidney and the urinary tract (CAKUT) syndrome, EVC with Ellis-van Creveld syndrome, FRAS1 and FREM2 with Fraser syndrome, PTPN11 with Noonan syndrome, and WNT9B with Mayer-Rokitansky-Küster-Hauser syndrome. Here, PTPN11 is linked to Ellis-van Creveld syndrome.