Human RecQL4 helicase plays multifaceted roles in the maintenance of genomic stability and mutations in RecQL4 leading to three autosomal recessive disorders: Rothmund–Thomson syndrome (RTS), RAPADILINO syndrome, and Baller–Gerold syndrome (BGS), and these three syndromes are somewhat clinically related1. Here, RECQL4 is linked to Baller-Gerold syndrome.