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AGAT deficiency
MONDO:0012996L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
Also known as: AGAT deficiency, CCDS3, GATM deficiency, L-arginine:glycine amidinotransferase deficiency, arginine:glycine amidinotransferase deficiency, cerebral creatine deficiency syndrome 3, cerebral creatine deficiency syndrome type 3, creatine deficiency syndrome due to AGAT deficiency
1 clinical trial for this condition and its sub-types, 1 tagged with AGAT deficiency itself.
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