About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory