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Creatine transporter deficiency

MONDO:0010305

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.

Also known as: SLC6A8 deficiency, cerebral creatine deficiency syndrome 1, cerebral creatine deficiency syndrome 1, X-linked recessive, cerebral creatine deficiency syndrome type 1, creatine transporter deficiency, CCDS1, X-linked creatine deficiency, X-linked creatine deficiency syndrome

6 clinical trials for this condition and its sub-types, 6 tagged with Creatine transporter deficiency itself.

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