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Human Disease
cerebral creatine deficiency syndrome 1
- Term ID
- DOID:0050800
- Synonyms
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- CEREBRAL CREATINE DEFICIENCY SYNDROME 1
- creatine transporter deficiency
- SLC6A8 deficiency
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0050800 )
- is a type of
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