OBO ID: DOID:0050798 |
Term Name: | cerebral creatine deficiency syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0050798 ) |
OTHER cerebral creatine deficiency syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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