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[Preprint]. 2024 Jan 31:2022.08.23.22278845. [Version 3] doi: 10.1101/2022.08.23.22278845

Extended Data Figure 2: Neuroimaging of other cases with DENND5A-related DEE show varying levels of phenotypic overlap.

Extended Data Figure 2:

a, CT from a homozygous individual with the variant p.V1202Afs*52 (participant 25) shows mild cortical volume loss, ventriculomegaly, thin corpus callosum, and lenticulostriate and periventricular calcifications (arrowheads). b, MRI from a compound heterozygous individual with variants c.950-20_950-17delTTTT/p.R1078Q (participant 9) shows mild corpus callosum volume loss (arrow). c, MRI from a compound heterozygous individual with variants p.R1032T/p.T1039N (participant 30) shows enlarged lateral ventricles. d, MRI from a compound heterozygous individual with variants p.K485E/p.R1159W (participant 8) shows a normal MRI with mild inferior cerebellar vermis hypoplasia (asterisk).