DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Laura E MeissnerEllen F MacnamaraPrecilla D'SouzaJohn YangGilbert Vezinanull nullCarlos R FerreiraWadih M ZeinCynthia J TifftDavid R Adams

Published in: Molecular genetics & genomic medicine (2020)

We recommend that the workup of future of patients include a comprehensive eye exam. Early establishment of physical, occupational, and speech therapy may help in the management of ataxia, hypertonia, and speech impairments common in these patients.

Keyphrases

intellectual disability
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
autism spectrum disorder
prognostic factors
stem cells
gene expression
patient reported outcomes