1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050799 | guanidinoacetate methyltransferase deficiency | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
