We found a de novo missense mutation in the Fzr1 gene (hg19; chr 19: 3527718; NM_001136198.1; c.560A>G) that generates an aspartate‐to‐glycine substitution (p.Asp187Gly) in a patient presenting microcephaly at birth, as revealed by the low OFD (< 3rd centile), and low body weight (< 3rd centile) (Table 1). The gene discussed is FZR1; the disease is microcephaly.