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DOID DOID:0050798
Name cerebral creatine deficiency syndrome
Definition An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/17603797, https://www.omim.org/entry/300352
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is_a amino acid metabolic disorder

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