Human genes for developmental and epileptic encephalopathy 39
Developmental and epileptic encephalopathy 39 [DOID:0080349]
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.
Synonyms: developmental and epileptic encephalopathy 39, DOID:0080349, AGC1 deficiency, early infantile epileptic encephalopathy 39, epileptic encephalopathy with global cerebral demyelination ...