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HURLER-PFAUNDLER SYNDROME [1 record]

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Record 1 2000-05-25

English

Subject field(s)
  • Bones and Joints
DEF

An autosomal recessive inborn a-iduronidase and characterized by progressive mental retardation and physical deterioration, short stature, coarse facies, corneal clouding, dysostosis multiplex, restricted joint mobiligy, and death by the mid-second decade as a result of pulmonary or cardiac complications.

French

Domaine(s)
  • Os et articulations

Spanish

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