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developmental and epileptic encephalopathy 39
Summary
- Synonym
-
- AGC1 deficiency
- early infantile epileptic encephalopathy 39
- epileptic encephalopathy with global cerebral demyelination
- 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.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080349
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75746 | Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial |
