has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of GATM glycine amidinotransferase activity disease cerebral creatine deficiency syndrome AGAT deficiency https://www.malacards.org/card/cerebral_creatine_deficiency_syndrome_3 L-arginine:glycine amidinotransferase deficiency SCTID:702440000 CCDS3 NANDO:1201033 arginine:glycine amidinotransferase deficiency cerebral creatine deficiency syndrome type 3 creatine deficiency syndrome due to AGAT deficiency MESH:C567192 GARD:0010323 disorder of glycine amidinotransferase activity glycine amidinotransferase activity disease cerebral creatine deficiency syndrome 3 AGAT deficiency DOID:0050712 Orphanet:35704 L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. GATM deficiency MONDO:0012996 UMLS:C2675179 NANDO:2201299 OMIM:612718 MEDGEN:436367 ICD9:270.8 creatine biosynthetic process disease