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DOID:0050799 - guanidinoacetate methyltransferase deficiency
Disease Ontology 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.
Synonyms: Cerebral creatine deficiency syndrome 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, GAMT deficiency
Xenbase Genes
:
gamt
| MONDO:0012999 - guanidinoacetate methyltransferase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cerebral creatine deficiency syndrome (is_a)