DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 4

Early infantile epileptic encephalopathy 4 [DOID:0080436]

An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

Synonyms:  early infantile epileptic encephalopathy 4,  DOID:0080436