Orphanet: X linked creatine transporter deficiency

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


Classification level: Disorder
  • 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: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.