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- Bfe2af971b97c0a2d96d579f536b452e6 hasDbXref "Orphanet:382" @default.
- Bfe2af971b97c0a2d96d579f536b452e6 type Axiom @default.
- Bfe2af971b97c0a2d96d579f536b452e6 annotatedProperty IAO_0000115 @default.
- Bfe2af971b97c0a2d96d579f536b452e6 annotatedSource MONDO_0012999 @default.
- Bfe2af971b97c0a2d96d579f536b452e6 annotatedTarget "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." @default.