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Metadata
ID	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
Xrefs	MIM:PS300352
Parent Relationships	is_a amino acid metabolic disorder
Subclass Logical Relationships	disease has location some cerebrum