The most common clinical features across all described individuals with ABL1 variants are dysmorphic facies (18/18), finger/toe abnormalities (17/18), congenital heart disease (14/18), failure to thrive (14/18), developmental delay (11/18), IUGR (10/18), ear abnormalities (9/18), palatal deformity (9/18) and microcephaly (9/18) (Table S1). The gene discussed is ABL1; the disease is microcephaly.