cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency https://www.malacards.org/card/cerebral_creatine_deficiency_syndrome_2 cerebral creatine deficiency syndrome 2 cerebral creatine deficiency syndrome type 2 disorder of guanidinoacetate N-methyltransferase activity UMLS:C0574080 ICD9:277.6 MESH:C537622 NANDO:1201034 MEDGEN:154356 GAMT deficiency NANDO:2201300 GARD:0002578 SCTID:124239003 guanidinoacetate N-methyltransferase activity disease NORD:1967 DOID:0050799 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. CCDS2 icd11.foundation:1811642217 guanidinoacetate methyltransferase deficiency Orphanet:382 MONDO:0012999 OMIM:612736 creatine biosynthetic process disease obsolete_guanidinoacetate methyltransferase deficiency