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Creatine deficiency, X-linked [Supplementary Concept]

An X-linked disorder of creatine (Cr) transport characterized by intellectual disability, severe SPEECH DELAY, behavioral abnormalities, and SEIZURES. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. Mutations in the SLC6A8 gene have been identified. OMIM: 300352

Date introduced: August 25, 2010

MeSH Unique ID: C535598

Heading Mapped to:

Entry Terms:

  • CCDS1
  • X-linked creatine transporter deficiency
  • X-linked creatine deficiency syndrome
  • Creatine Deficiency Syndrome, 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
  • Creatine Transporter Defect
  • Creatine Transporter Deficiency
  • Slc6a8 Deficiency
  • Cerebral creatine deficiency syndrome 1
  • Slc6a8-Related Creatine Transporter Deficiency

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