Figure EV1. Patient Neuroimaging.

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ASagittal T1‐weighted FSE showing thinning of the posterior part of the corpus callosum with agenesis of the splenium. Prominent subcutaneous fat deposition can also be seen.
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BAxial T1 FSPGR reveals that the third ventricle is bigger and the ventricular atrium has a parallel orientation, due to agenesis of the splenium.
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CMRS of the patient's brain shows a normal spectroscopy pattern.