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Disease Ontology Browser
cerebral creatine deficiency syndrome 1 (DOID:0050800)
Alliance: disease page
Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; creatine transporter deficiency; SLC6A8 deficiency
Alt IDs: OMIM:300352
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.

Disease References using Mouse Models (7)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory