Disease association ontology term - MONDO:0012999 - guanidinoacetate methyltransferase deficiency
Term summary
- ID
- MONDO:0012999
- Name
- guanidinoacetate methyltransferase deficiency
- Ontology or CV name
- Disease association
- Definition
- A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
