Fig. 1. Molecular and clinical information on the ELP2 variants found in patients with intellectual disability and autism.

a Mid- and lateral-sagittal (left), transversal (middle), and coronal (right) MRI scans of Patient 4 (refer to Supplementary Table 1.) revealing microcephaly with few and shallow sulci. b Sagittal and transversal MRI brain scans of Patient 5 showing normal brain at 3 months (two panels left) and decreased white matter, secondary ventricular enlargement, and thin corpus callosum at 19 months of age (two panels right). c Sagittal (left), transversal (middle) and coronal (right) brain MRI scans of 17-years-old Patient 6 showing microcephaly and severe brain atrophy (cortex, cerebellum, and brain stem atrophy) with white matter loss, secondary ventricular enlargement, and thin corpus callosum. Arrows indicate thin corpus callosum and arrowheads point to a broadened subarachnoid space in (a) and ventricular enlargement in (b) and (c). d Schematic representation of the ELP2 mutations identified in patients with intellectual disability and autism. WD40 protein domains are shown in orange. Position of missense (in blue) and frameshift (fs) mutations (in red) is indicated.