A 7 years male child presented with short stature,height is 89cms,proporsionate ,delayed mile stone,difficulty in climbing the stairs.there is no mental retardation,joint laxity was present,kyphosis,delayed bone age,gross hepatomegaly, on usg fatty changes,kidney normal,LFT,KFT,electrolyte normal.CT BRAIN shows basal ganglia calcification.genitalia normal,flat feet present,had one episode of epistaxis.fundus normal.CPK 30mg%. WHAT COULD BE THE POSSIBLE DIAGNOSIS?
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