Search Ontology:
Human Disease
cerebral creatine deficiency syndrome
- Term ID
- DOID:0050798
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0050798 )
- is a type of
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- has subtype
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