DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 39

Early infantile epileptic encephalopathy 39 [DOID:0080349]

An early infantile epileptic encephalopathy that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.

Synonyms:  early infantile epileptic encephalopathy 39,  DOID:0080349,  AGC1 deficiency,  epileptic encephalopathy with global cerebral demyelination,  epileptic encephalopathy with global cerebral demyelinations