ZFIN Image: Dworschak et al., 2021, Figure 2

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Figure 2

Fig. 2. Families with monoallelic PLXNA1 variants.

a Pedigrees and Sanger sequencing results of three families with monoallelic de novo variants in PLXNA1. b–d Photographs and brain magnetic resonance image (MRI) of affected patient of family G. b G:II-1 showing unilateral facial palsy, dysmorphic right auricle and bilateral sensorineural hearing loss due to agenesis of vestibulocochlear nerves requiring cochlear implants. c Midsagittal T1 MRI of G:II-1 showing absent posterior pituitary and mild hypoplasia of brainstem. d Coronal T2 MRI of G:II-1 showing mild dilatation of the ventricular system, delayed myelination including the periventricular region.

Acknowledgments

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