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

Figure 2: Cortical malformations, corpus callosum and anterior commissure dysgenesis, ventriculomegaly, basal ganglia dysgenesis, calcifications, and diencephalic/mesencephalic dysplasia are indicative of severe DENND5A-related DEE.

Figure 2:

Sample MRI slices from unrelated individuals with a, homozygous p.Q1271R*67 variants (participant 5); b, homozygous p.S728Qfs*34 variants (participant 14); c, compound heterozygous p.K485E/p.R710H variants (participant 2); and d, compound heterozygous c.2283+1G>T/p.K1007Efs*10 variants (participant 18) show many neuroanatomical phenotypes in common. Arrows = posterior gradient of pachygyria/lissencephaly; open arrows = severe basal ganglia dysmorphism; arrowheads = diencephalic/mesencephalic junction dysplasia; open arrowheads = periventricular, striatal, and diencephalic calcifications; small arrows = corpus callosum dysgenesis/agenesis; asterisks = cerebellar hypoplasia.