There is considerable overlap between the phenotype of MAPKAPK5-related NDD and the syndrome of dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL), which was reported in 2016 by Shaheen and colleagues.7 This entity is listed in OMIM as microcephaly, facial dysmorphism, renal agenesis and ambiguous genitalia (MFRG; OMIM 618142). Here, MAPKAPK5 is linked to renal agenesis.