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Disease Ontology Browser
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory