In an individual with intellectual disability, congenital microcephaly, micrognathia and clinical suspicion of a Kabuki syndrome (MIM # 147920)-like condition15, we identified a de novo heterozygous frameshift variant in EIF5A (c.324dupA, p.R109Tfs*8) by trio whole-exome sequencing (Fig. 1a–c, Table 1, individual #3, and Supplementary Note 1). Here, EIF5A is linked to Primary microcephaly.