Figure 2.

The disease phenotype: (a,b) Dysmorphic features seen in two of the affected individuals IV-4 at (a) and V-1 (b) at ages 5 and 9 months and 6 years, respectively. (c) Brain magnetic resonance imaging (MRI) of an affected individual V-1. Sagital T2 image demonstrates partial agenesis of corpus calosum and inferior vermis hypoplasia with moderately enlarged fourth ventricle cyst. (d) Sagital T2 fetal MRI at 25 weeks of gestation (individual IV5), showing severe hypoplasia of the vermis and cerebellum with enlarged retrocerebellar cistern.