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| Term | guanidinoacetate methyltransferase deficiency | ID (Ontology) | DOID:0050799 (Human Disease) |
| 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. | ||
| Also Known As | "Cerebral creatine deficiency syndrome 2" ; "GAMT deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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amino acid metabolic disorder |__cerebral creatine deficiency syndrome |__guanidinoacetate methyltransferase deficiency |
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| Is a | cerebral creatine deficiency syndrome | ||
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External Crossreferences & Linkouts
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GARD:2578 MESH:C537622 MIM:612736 |
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