| Metadata | |
|---|---|
| ID | DOID:0050799 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050799 Copy |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Cerebral creatine deficiency syndrome 2 [EXACT] GAMT deficiency [EXACT] |
| Parent Relationships |