PGM1-CDG is characterized by high clinical heterogeneity and multi-organ involvement, but the most frequently diagnosed symptoms are cleft palate/uvula, hepatopathy, growth delay, endocrine deficiency, exercise intolerance, myopathy (with or without rhabdomyolysis) and cardiac defects (which proved fatal in some cases) [239]. Here, PGM1 is linked to Decreased liver function.