ZFIN Image: Smits et al., 2022, Fig. 1

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Figure Caption

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

Acknowledgments

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