DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 5

Early infantile epileptic encephalopathy 5 [DOID:0080438]

An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

Synonyms:  early infantile epileptic encephalopathy 5,  DOID:0080438