In 17 probands with biallelic variants in RECQL4 and a diagnosis of RAPADILINO syndrome reported in the literature, the variant c.1390+2delT was present in 20 out of 34 alleles (59%), in accordance with a high prevalence of this disorder in the Finnish population and probably contributing to a more homogeneous phenotype (Supplementary Table S2). The gene discussed is RECQL4; the disease is rapadilino syndrome.