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developmental and epileptic encephalopathy 23
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080415
- Mondo Disease Ontology
- ORDO
- OMIM
