Here we report an 18‐month‐old female with severe early‐onset developmental delay and cerebral and cerebellar atrophy associated with a novel, presumed de novo, likely pathogenic variant (Richards et al., 2015) in UBTF c.608A>G p.(Gln203Arg) (NM_014233.3), hereafter referred to as p.(Gln203Arg), that is predicted to affect the HMG homology domain. This evidence concerns the gene UBTF and Global developmental delay.