PMM2-CDG

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PMM2-CDG is a rare, genetic multisystem disorder that causes weak muscle (hypotonia), inverted nipples, cerebellar dysfunction, abnormal fat distribution, developmental delay, and failure to thrive.  Signs also include distinctive facial features such as a high forehead, triangular face, crossed-eyes, large ears, and a thin upper lip. The type and severity of symptoms vary widely. While there is no cure, treatments can target specific symptoms.

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