Figure 1.

Figure 1.

Facial profiles of females heterozygous for a de novo DDX3X pathogenic variant

Facial features of 30 of 38 females with a de novo DDX3X pathogenic variant. Common facial features include a long and/or hypotonic face, a high and/or broad forehead, a wide nasal bridge and/or bulbous nasal tip, narrow alae nasi and/or anteverted nostrils, and hypertelorism.

From Snijders Blok et al [2015]. Republished with permission.

From: DDX3X-Related Neurodevelopmental Disorder

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