Term Name:	developmental and epileptic encephalopathy 39
Synonyms:	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.
Ontology:	Human Disease [DOID:0080349]   ( DOID:0080349 )