PRKDC and renal agenesis: In F1, a male fetus with multiple abnormalities including limb defects, craniofacial defects, anogenital defects, heart defects, a tracheal esophageal fistula and renal agenesis, we found the compound heterozygous mutations c.9598C>T (p.3200P>S) and c.1420G>T (p.474V>F) in PRKDC (MIM 600899, ENST00000338368).