cerebral creatine deficiency syndrome 3 Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (Human Disease Ontology, DOID_0050712)
External Link http://www.omim.org/entry/612718
Similar Terms
Downloads & Tools


1 genes associated with the cerebral creatine deficiency syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)