Creatine transporter deficiency
MONDO:0010305X-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.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
(14)
Developmental defect during embryogenesis
(8)
Inborn disorder of amino acid metabolism
(4)
Disease of genetic or genomic mechanism
(2)
Amino acid metabolism disease
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Inborn disorder of energy metabolism
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