16
Case16: Male, 6 years onset, 12.5 years diagnosis, 13 years report
CasePresentingHPOs: HP:0003325, HP:0003327, HP:0003236, HP:0003691 (Limb-girdle muscle weakness, Axial muscle weakness, Increased serum CK, Scapula alata)
CaseAddInfo: Late-Onset Pompe Disease