CHAMP1 and microcephaly: Pathogenic variants of CHAMP1 have been reported in patients with intellectual disability and other signs, such as microcephaly, muscular hypotonia, facial dysmorphism, and eye anomalies.1–3 Here, we report a novel nonsense mutation in CHAMP1, NM_001164144.2:c.1465C>T, p.(Gln489*).