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Summary Literature (0)
MIM:612736 - CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Xenbase Genes: gamt

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012999 - guanidinoacetate methyltransferase deficiency

Disease Ontology (DO):
DOID:0050799 - guanidinoacetate methyltransferase deficiency