developmental and epileptic encephalopathy 39

Term ID

DOID:0080349

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. (3)

References

• MESH:C567847
• MIM:612949
• ORDO:353217

Ontology

Human Disease   ( DOID:0080349 )