Term Name:	guanidinoacetate methyltransferase deficiency
Synonyms:	Cerebral creatine deficiency syndrome 2, GAMT 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.
Ontology:	Human Disease [DOID:0050799]   ( DOID:0050799 )