FIGURE

Figure 1

ID

ZDB-FIG-210930-16

Publication

Dworschak et al., 2021 - Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

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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).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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