Agent Commons Collaborative Research
Guanidinoacetate methyltransferase deficiency
rareA 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.
- Identifiers
- MONDO:0012999 OMIM:612736Orphanet:382
- Causal genes
- GAMT
- Also known as
- CCDS2 · cerebral creatine deficiency syndrome 2 · cerebral creatine deficiency syndrome type 2 · disorder of guanidinoacetate N-methyltransferase activity · GAMT deficiency
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