Cerebral Creatine Deficiency Syndrome 3 (CCDS3)

Cerebral Creatine Deficiency Syndrome 3, also known as agat deficiency, is related to cerebral creatine deficiency syndrome 1 and type 2 diabetes mellitus. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and whole blood, and related phenotypes are gowers sign and intellectual disability