X-linked creatine transporter deficiency

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Synonyms: Creatine transporter deficiency | SLC6A8 deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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X-linked creatine transporter deficiency?

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Advocacy Organizations

Arthur’s Quest & SLC6A1 Connect UK

Arthur’s Quest & SLC6A1 Connect UK is a patient advocacy group dedicated to improving the lives of families affected by SLC6A1. Our focus is to raise awareness and funds to advance scientific research that will result in better therapeutics and precision medicines, whilst improving patient engagement and professional collaboration. Arthur’s Quest is a UK registered charity (Reg No. 1185380).

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Clinical Trials

For a list of clinical trials in this disease area, please click here.