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Metadata
ID	DOID:0050799
Name	guanidinoacetate methyltransferase deficiency
Definition	A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
Xrefs	GARD:2578 MESH:C537622 OMIM:612736
Subsets	DO_rare_slim
Synonyms	Cerebral creatine deficiency syndrome 2 [EXACT] GAMT deficiency [EXACT]
Parent Relationships	is_a cerebral creatine deficiency syndrome