Extended Data Fig. 7: MRI images for the two affected individuals with homozygous PEDS1 variant.

a, Axial FLAIR image of individual A-VI-1 shows confluent signal abnormalities in the periventricular and subcortical white matter (white arrows with green outline), along with prominent extra-axial CSF spaces in the frontal and temporal lobes. b, Axial T1-weighted image of individual B-III-3 demonstrates normal brain signal and morphology, with normal ventricular size. c, Axial T2-weighted image for individual B-III-3 demonstrates diffuse subcortical white matter and increased signal on T2 WI, which is normal for the demyelinating white matter in this age group. d, Sagittal T1-weighted image for individual B-III-3 demonstrates normal brain structures and morphology.