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PGAP3-Congenital Disorder of Glycosylation
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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.
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© 2024 Elsevier. All rights reserved.
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
Follow us on social:
Our Vision: Everyone who cares for someone will learn by Osmosis.
© 2024 Elsevier. All rights reserved.
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