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Fig. 1

ID

ZDB-FIG-251004-64

Publication

Arkush et al., 2025 - Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Eur. J. Hum. Genet.