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Disease Ontology Browser
developmental and epileptic encephalopathy 84 (DOID:0112219)
Alliance: disease page
Synonyms: 'DEE84'; 'early infantile epileptic encephalopathy 84'; 'Jamuar syndrome'
Alt IDs: OMIM:618792
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14.


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