FIGURE

Figure 2

ID

ZDB-FIG-210930-17

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 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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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