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. 2021 Oct 8;108(10):2006–2016. doi: 10.1016/j.ajhg.2021.08.003

Figure 2.

Figure 2

Neuroimaging features in individuals harboring bi-allelic predicted-deleterious variants in SPATA5L1

(A) T1 and T2/FLAIR MRI images were assessed for the presence of periventricular leukomalacia (defined as T2 hyperintensity and/or diminished white matter volume/ex vacuo ventriculomegaly evident adjacent to the ventricles); anterior temporal lobe hypoplasia; widened Sylvian fissures (characterized as diminished coverage of the insular cortex), diminished cortical volume; and thin/dysplastic corpus callosum. Ages were 4 years old (1-1, 1-2), 21 years old (7-9), 10 years old (8-10), 7 years old (8-11), 6 years old (8-12), and 1 year old (12-16).

(B) Boxplot of six structural measures quantified from brain MRI volumes, represented as Z scores, in comparison to an age-matched control cohort of typically developing children.