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. 2016 Aug 1;135(11):1263–1268. doi: 10.1007/s00439-016-1719-x

Fig. 1.

Fig. 1

a Family pedigree, b esotropia and microcephaly, broad forehead, esotropia, low set ears, retrognathia, deep prominent philtrum and sparse eyebrows, c selected MR image of the brain at the level of basal ganglia, coronal T2-WI shows bilateral subinsular white matter hyper intensity (arrows) and right head of caudate atrophy with a tiny cyst (star), d axial T2-WI shows bilateral scattered subcortical and periventricular white matter hyperintensities (arrows)