cerebral creatine deficiency syndrome
Findings
No curated finding names cerebral creatine deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0000456), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: cerebral creatine deficiency syndrome
- Also called
- CCDSCDScreatine deficiency syndrome