OBO ID: DOID:0050799 |
Term Name: | guanidinoacetate methyltransferase deficiency | Search Ontology: | |
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Definition: | A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency | ||
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Ontology: | Human Disease ( DOID:0050799 ) |
OTHER guanidinoacetate methyltransferase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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