[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

Figure 1

A Chinese boy presents NDD. (a) Family pedigree. Arrow indicates the proband (II2); squares indicate males; circles indicate females; the filled symbol indicates the affected individual. (b–f) Facial and skin features of the patient at 10/19 months of age. (b, c) The patient displays macrocephaly, prominent forehead, and open mouth. (d–f) Allergic rash. Mainly concentrated on the limbs and trunk. (g–l) Brain MRI of the proband. (g–i) MRI showed a hypoplastic corpus callosum, temporal lobe parenchymal atrophy, enlargement of the ventricular system, and retardation of myelination of the white matter. (j–l) The bilateral temporal cortex was clear and plump (red arrows).

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