This finding was consistent with the phenotype of SYS.[6] In terms of dyspnoea phenotype, Magel2 was highly expressed in abdominal wall muscle, diaphragm and other systems, and its loss led to low tension of the respiratory muscles, decrease in respiratory capability and lack of ventilation.[7] Uncontrollable obesity was an important phenotype of the Magel2 mutation. Here, MAGEL2 is linked to obesity due to melanocortin 4 receptor deficiency.