MED13L and cardiac anomalies - developmental delay - facial dysmorphism syndrome: Impaired intellectual development and distinctive facial features with or without cardiac defects (MIM# 616789), also referred to as Asadollahi-Rauch syndrome (ARS), is caused by heterozygous variants in MED13L. CAKUT_P147 has a definitive diagnosis of ARS and vesicoureteral reflux, and CAKUT_P252 and CAKUT_P385 have provisional diagnoses of ARS bilateral renal hypoplasia with end stage renal disease, and crossed fused renal ectopia, respectively.