Fig. 1

Fig. 1 Clinical data of the proband and his family.

A Brain MRI of proband performed at aged 5 months (T1-weighted image: i – sagittal, ii – coronal, iii/iv – axial) demonstrating prominent hypoplasia of all cerebellar structures, hypoplastic pons, generalized mild cerebral atrophy, thin corpus callosum, and delayed myelination. B Brain MRI of proband’s brother aged 4 years, 5 months. (T1-weighted image: i – sagittal, ii – coronal) demonstrating profound hypoplastic cerebellum including the vermis and the pons with a thin corpus callosum. Axial T2/FLAIR- weighted image (iii/iv) shows brain atrophy, diffuse diminished white matter, very small basal ganglia with high T2/FLAIR signal signifying damage/gliosis, with preserved thalamus structure. C Inter-ictal EEG recording from the proband demonstrating dysrhythmia and multifocal epileptiform activity. D Chromatograms of the proband and his parents. Top – the heterozygous parents, bottom – the homozygous proband. E Pedigree of affected family. Solid black squares indicate affected individuals, wt – wild type, m - c.416T > C MED29 variant.