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Human Disease

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
Ontology
Human Disease   ( DOID:0050799 )
Relationships
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Genes Involved
Zebrafish Models