PHIP and Cornelia de Lange syndrome: Aoi et al. investigated a cohort of patients with suspected Cornelia-de-Lange syndrome (CdLS, OMIM #122470) and identified one individual with a missense substitution in PHIP (Aoi et al., 2019), while Kaur et al. extended the phenotypic spectrum with a case of CHUJANS also showing hypothyroidism and small kidneys (Kaur and Panigrahi, 2021).