The CUL3 variant located in exon 10, CUL3Δ474-477, displayed developmental delays, intellectual impairment, the classic FHHt triad, as well as other systemic issues like recurrent pulmonary infections, hyperreflexia, hypotonia, and non-specific thinning and volume loss of lateral ventricular white matter. Here, CUL3 is linked to Global developmental delay.