Hunter Syndrome (Mucopolysaccharidosis Type II) Differential Diagnoses

Updated: Apr 18, 2018
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Diagnostic Considerations

Carrier status of the mother determines the recurrence risk to the family and can be accurately determined by molecular testing once the IDS mutation in the male proband is identified.

Differential Diagnoses