Dyrk1a-Related Intellectual Disability Syndrome

A rare genetic syndromic intellectual disability characterized by congenital microcephaly, short stature, global developmental delay, moderate to severe intellectual disability, absence or severe impairment of speech, and dysmorphic facial features (such as bitemporal narrowing, deep-set eyes, high nasal root, and prominent and dysplastic ears). Additional, more variable manifestations are seizures, ocular anomalies, and minor skeletal defects, among others. Brain imaging may show small brain stem, enlarged ventricles, hypoplastic corpus callosum, white matter abnormalities, and cerebral atrophy.