Phosphomannomutase deficiency (PMM2-CDG) is the most common type of congenital disorders of glycosylation. We report 12 Brazilian patients (10 males and two females) with a PMM2-CDG diagnosis. All patients had severe global neurodevelopmental delay: only two patients were able to walk alone. All non-ambulatory patients (but one) had features of demyelinating peripheral neuropathy. Two patients in our series died in the first months of life after presenting with symptoms since neonatal period. Better recognition and early management are essential in this disorder not only for therapeutic reasons but also for providing genetic counseling to affected families.

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