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PGAP3-congenital disorder of glycosylation, or PGAP3-CDG for short, also known as Mabry syndrome and previously known as hyperphosphatasia with impaired intellectual development syndrome 4, is a rare inherited neurological disorder caused by defects in one of the pathways of glycosylation. Affected individuals can have distinctive facial features that include a broad and short nose, wide-set eyes, a thin upper lip, large ears, and full cheeks; though these features may not be apparent in infancy. #shorts Find our full video library only on Osmosis: http://osms.it/more. Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo. Follow us on social: Facebook: http://osms.it/facebook Twitter: http://osms.it/twitter Instagram for med: http://osms.it/instagram Instagram for nursing: https://osms.it/ignursing TikTok: https://osms.it/tiktok Linkedin: https://osms.it/linkedin Our Vision: Everyone who cares for someone will learn by Osmosis. Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: http://osms.it/mission Medical disclaimer: Osmosis from Elsevier does not provide medical advice. Osmosis from Elsevier and the content available on the Osmosis from Elsevier properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of
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