Cerebral Creatine Deficiency Syndrome 1
Disease ID: disease_node_20542
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| Dbxref | MIM:300352 |
|---|---|
| Subclassof | DOID_0050798 |
| Data Source | DOID |
| Synonyms | CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SLC6A8 deficiency, creatine transporter deficiency |
| Doid Label | cerebral creatine deficiency syndrome 1 |
| Doid Description | A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. |
| Disease Node Id | disease_node_20542 |
| Doid Id | DOID_0050800 |
| Label | Cerebral Creatine Deficiency Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Cerebral Creatine Deficiency Syndrome(ID:disease_node_20541) (Disease)