LIG4 and Ochoa syndrome: In an individual with biallelic variants in LRIG2, the causal gene for urofacial syndrome (MIM 615112), and a homozygous LIG4 missense variant, the affected child had recurrent episodes of urosepsis, secondary to severe vesicoureteral reflux, leading to left kidney hypoplasia and scarring (Fadda et al., 2016).