developmental and epileptic encephalopathy 23

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_

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.

Signs and symptoms

• Cerebral visual impairment
• Abnormal pinna morphology
• Global developmental delay
• Low anterior hairline
• Epileptic encephalopathy
• Anteverted nares
• Hypoplasia of the pons
• Broad nasal tip
• Hypoplasia of the corpus callosum
• Telecanthus

Also known as: DEE23; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome; early infantile epileptic encephalopathy 23