Figure 1.

Clinical features of MAGIS syndrome. The acronym captures five cardinal features, namely, Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects. Percentages indicate frequencies in our patient cohort. The Latin word magis means “more,” which is helpful in remembering that the GNAI2 mutations in this syndrome are gain-of-function (GOF) (more than WT).

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