DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 12

Early infantile epileptic encephalopathy 12 [DOID:0080459]

An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.

Synonyms:  early infantile epileptic encephalopathy 12,  DOID:0080459