Figure 2.

Brain MRI characteristics of individuals P1–P7

The MRIs were performed at the following ages: P1, 3 years 3 months; P2, 2 years 3 months; P3, 12 years 3 months; P4, 9 years 4 months; P5, 19 years 3 months; P6, 3 years 9 months; and P7, 26 months. From left to right, sagittal midline, axial T1 (except P6, coronal), axial T2 (except P7, coronal) at the level of basal ganglia, axial T2 (except P7, FLAIR) at the level of the lateral ventricles, and axial FLAIR at the level of the basal ganglia. Affected individuals with bi-allelic variants in ABHD16A have a thin corpus callosum (first column), with or without cavum vergae and/or cavum septum pellucidum (columns 2, 3, and 5), and non-specific periventricular and/or deep white matter abnormalities (columns 3, 4, and 5).