Supplementary Figure 10: Comparison of neuroimaging in patients with CP due to CTC1 mutations and LCC due to mutations in SNORD118 (F172).

(a,c) Axial T2 MRIs of a patient with CP (a) and a patient with LCC (c) showing a similar appearance with leukoencephalopathy, calcification and cysts. (b,d) CT images are also largely similar with dense thalamic and deep cortical calcification. There is more extensive calcification in the patient with LCC (d).