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Mucolipidosis type III
A rare, inborn error of metabolism characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. Progressive hip dysplasia may cause bone pain and leads to waddling gait. Other features may include mild corneal clouding, carpal tunnel syndrome, cardiac valvular disease, mild coarsening of facial features, and mild intellectual disability.
ORPHA:577Classification level: Disorder