| Metadata | |
|---|---|
| ID | DOID:0050800 |
| Name | cerebral creatine deficiency syndrome 1 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/17603797, https://www.omim.org/entry/300352 |
| Xrefs | |
| Synonyms |
CEREBRAL CREATINE DEFICIENCY SYNDROME 1 [EXACT] creatine transporter deficiency [EXACT] SLC6A8 deficiency [EXACT] |
| Parent Relationships |