guanidinoacetate methyltransferase deficiency

Term ID

DOID:0050799

Synonyms

• Cerebral creatine deficiency syndrome 2
• GAMT deficiency

Definition

A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency

References

• GARD:2578
• MESH:C537622
• MIM:612736

Ontology

Human Disease   ( DOID:0050799 )