Human genes for guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency [DOID:0050799]
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.
Synonyms: guanidinoacetate methyltransferase deficiency, DOID:0050799, guanidinoacetate methyltransferase deficiencies, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, GAMT deficiency ...
Linkouts: OMIM