Following the identification of truncating MAGEL2 mutations, Patients 2–4 and their respective parents were subsequently enrolled in a research study investigating variants of unknown significance, approved by the Institutional Review Board of BCM. Informed consent for all study participants was obtained. For individuals 1, 2, and 3, for whom clinical photographs are shown in Supplementary Note 1, consent was obtained specifically stating the agreement to publish these photographs in medical publications, even if the individual displayed in the picture can be recognized.
