We report a patient with biallelic KIF7 variants and thoracic insufficiency and skeletal dysplasia characteristic of short-rib thoracic dysplasia syndromes with the accompanying features of kidney disease, liver disease, cerebellar volume loss, and developmental delay, which may suggest a novel association between KIF7 and short-rib thoracic dysplasia syndromes. This evidence concerns the gene KIF7 and Global developmental delay.