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Genetic and Rare Diseases Information Center (GARD)

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X-linked creatine deficiency

Other Names for this Disease
  • Creatine deficiency, X-linked
  • Mental retardation , X-linked with seizures, short stature and midface hypoplasia
  • Mental retardation , X-linked, with creatine transport deficiency
  • X-linked creatine deficiency syndrome
  • X-linked creatine transporter deficiency
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