FIGURE

Fig. 1

ID

ZDB-FIG-230228-412

Publication

Smits et al., 2022 - CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

Other Figures

All Figure Page

Back to All Figure Page

Fig. 1

Clinical features and brain MRI of individuals with CLEC16A variants. a, b Pedigrees of the two families with CLEC16A variants. Black boxes represent affected individuals. + / − indicate heterozygous individual, + / + indicates homozygous individual, − / − indicates homozygous WT. Subjects II-1/2 from family 1 presented with similar clinical features as observed in individual II-3 but were not tested for the CLEC16A variant, as there was no DNA available for these siblings. Heterozygosity was confirmed for both parents. c, d Facial features of subject II-1 from family 2. e–j Brain MRI of the affected individual of family 2 made at 3 months of age with midsagittal T1-weighted images (e), and axial T1-weighted images

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 @ Hum. Genet.