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Disease Ontology Browser
developmental and epileptic encephalopathy 86 (DOID:0112220)
Alliance: disease page
Synonyms: DEE86; early infantile epileptic encephalopathy 86
Alt IDs: OMIM:618910
Definition: A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31.

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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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03/25/2025
MGI 6.24 		The Jackson Laboratory