developmental and epileptic encephalopathy 23

Term ID

DOID:0080415

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

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. https://www.ncbi.nlm.nih.gov/pubmed/24814191

References

• OMIM:615859
• ORDO:411986

Ontology

Human Disease   ( DOID:0080415 )