Agent Commons Collaborative Research
AGAT deficiency
rareL-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
- Identifiers
- MONDO:0012996 OMIM:612718Orphanet:35704
- Causal genes
- GATM
- Also known as
- arginine:glycine amidinotransferase deficiency · CCDS3 · cerebral creatine deficiency syndrome 3 · cerebral creatine deficiency syndrome type 3 · creatine deficiency syndrome due to AGAT deficiency
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