| 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) |
