This paper presents further evidence related to the disease-predisposing allele, c.628G>A (p.Glu210Lys) in UBTF, and further describes the clinical features of early-onset neurodevelopmental delay and regression as well as the neuroimaging findings of progressive bilateral thalamic lesions, diffuse and symmetric abnormal signal intensity over periventricular and peritrigonal deep white matter, and progressive cortical and subcortical atrophy. Here, UBTF is linked to Neurodevelopmental delay.