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A rare congenital disorder of glycosylation characterized by moderate intellectual disability short stature mild skeletal changes and distinctive facial features with coarse face synophyrs and deep nasolabial ridges. Skeletal features include broad ribs stocky long bones short femoral necks with coxa valga clinodactyly and broad thumbs.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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