Clinical findings in individuals presenting RTS spectrum harboring variants in RECQL4 (data from our group, not published), ANAPC1, CRIPT and DNA2. Symptoms marked in green are observed in >50% of patients harboring mutations in any of the four genes, while findings marked in orange are gene-specific phenotypes seen in >50% of patients with mutations in only one of the four genes. The gene discussed is RECQL4; the disease is Rothmund-Thomson syndrome.