developmental and epileptic encephalopathy 23 (DOID:0080415)
Alliance: disease page
Synonyms: DEE23; early infantile epileptic encephalopathy 23; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Alt IDs: OMIM:615859, ORDO:411986
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.