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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebral creatine deficiency syndrome 1
Summary
- Synonym
-
- CEREBRAL CREATINE DEFICIENCY SYNDROME 1
- SLC6A8 deficiency
- creatine transporter deficiency
- 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.
- Super Class
- cerebral creatine deficiency syndrome
External Links
- Disease Ontology
- DOID:0050800
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P27797 | Calreticulin |
