ZFIN Image: Dworschak et al., 2021, Figure 1

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Figure Caption

Figure 1

Fig. 1. Families with biallelic PLXNA1 variants.

a Pedigrees and Sanger sequencing results of four families with biallelic variants in PLXNA1. b–h Photographs and brain magnetic resonance image (MRI) of affected siblings of family D. b, c D:II-1 showing mild microphthalmia, depressed nasal bridge, short neck, and hypopigmented stains that were absent in both parents. d T1 axial MRI of D:II-1 showing dysmorphic ventricular system most prominent in posterior horns (arrow). e, f D:II-2 showing strabismus, sparse lateral eyebrows, flattened nasal bridge, large earlobes, and hypopigmented lesions on the torso measuring less than 1 cm. g, h Axial T2 FLAIR MRI of D:II-2 showing dysmorphic ventricular system (arrow in g), and frontal steer horn sign typically seen in corpus callosum (CC) agenesis in the T2 coronal (h).

Acknowledgments

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