DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 23

Early infantile epileptic encephalopathy 23 [DOID:0080415]

An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.

Synonyms:  early infantile epileptic encephalopathy 23,  DOID:0080415,  Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,  Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome,  Earlyonset epileptic encephalopathycortical blindnessintellectual disabilityfacial dysmorphism syndrome ...