DYRK1A-related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance could make it less recognizable.
Keywords: DYRK1A; DYRK1A-related intellectual disability; WES; dysmorphisms; ethnic diversity; genotype-phenotype correlations.
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