FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebral creatine deficiency syndrome 1 ID (Ontology) DOID:0050800 (Human Disease)
Definition A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
Also Known As "CEREBRAL CREATINE DEFICIENCY SYNDROME 1" ; "creatine transporter deficiency" ; "SLC6A8 deficiency"
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 cerebral creatine deficiency syndrome 1       8
 for disease ribbon | cerebral creatine deficiency syndrome 1       8
 model of | cerebral creatine deficiency syndrome 1       8
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  amino acid metabolic disorder
   |__cerebral creatine deficiency syndrome
       |__cerebral creatine deficiency syndrome 1  8 rec.
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Synonyms
  • "CEREBRAL CREATINE DEFICIENCY SYNDROME 1" EXACT
    "creatine transporter deficiency" EXACT
    "SLC6A8 deficiency" EXACT
Secondary IDs
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MIM:300352