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. 2014 Jun 25;23(3):310–316. doi: 10.1038/ejhg.2014.112

Figure 1.

Figure 1

Clinical findings. Patients 1 (a and c) and 2 (b and d) presented with strikingly similar dysmorphic features and neurological phenotype. Characteristic facial features included dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares and low-set ears. Additionally, the patients developed truncal hypotonia and axial hypertonia.