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Disease Ontology Browser
developmental and epileptic encephalopathy 39 (DOID:0080349)
Alliance: disease page
Synonyms: 'AGC1 deficiency'; 'early infantile epileptic encephalopathy 39'; 'epileptic encephalopathy with global cerebral demyelination'
Alt IDs: OMIM:612949, ORDO:353217
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.

Disease References using Mouse Models (1)

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
06/14/2022
MGI 6.19
The Jackson Laboratory