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Metadata
DOID DOID:0050799
Name guanidinoacetate methyltransferase 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
Synonyms

CEREBRAL CREATINE DEFICIENCY SYNDROME 2 [EXACT]

GAMT deficiency [EXACT]

Xrefs

GARD:2578

MESH:C537622

OMIM:612736

Relationships

is_a cerebral creatine deficiency syndrome

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