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Disease Ontology Browser
guanidinoacetate methyltransferase deficiency (DOID:0050799)
Alliance: disease page
Synonyms: Cerebral creatine deficiency syndrome 2; GAMT deficiency
Alt IDs: OMIM:612736, MESH:C537622
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory