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Diseases

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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Tests & Diagnosis

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Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.