has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of GAMT guanidinoacetate N-methyltransferase activity disease 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 MESH:C537622 NANDO:1201034 NANDO:2201300 SCTID:124239003 DOID:0050799 Orphanet:382 guanidinoacetate methyltransferase deficiency OMIM:612736 cerebral creatine deficiency syndrome type 2 disorder of guanidinoacetate N-methyltransferase activity UMLS:C0574080 ICD9:277.6 creatine deficiency syndrome due to GAMT deficiency MEDGEN:154356 GAMT deficiency GARD:0002578 guanidinoacetate N-methyltransferase activity disease NORD:1967 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 MONDO:0012999 creatine biosynthetic process disease