Disease association ontology term - MONDO:0000456 - cerebral creatine deficiency syndrome
Term summary
- ID
- MONDO:0000456
- Name
- cerebral creatine deficiency syndrome
- Ontology or CV name
- Disease association
- Definition
- Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
