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X-linked creatine transporter deficiency

Disease definition

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

ORPHA:52503

  • Synonym(s):
    • Creatine transporter deficiency
    • SLC6A8 deficiency
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or Not applicable 
  • Age of onset: Infancy, Childhood
  • ICD-10: E72.8
  • OMIM: 300352
  • UMLS: C1845862
  • MeSH: -
  • GARD: 1608
  • MedDRA: -

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