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Disease Ontology Browser
developmental and epileptic encephalopathy 58 (DOID:0080285)
Alliance: disease page
Synonyms: DEE58; early infantile epileptic encephalopathy 58
Alt IDs: OMIM:617830
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.


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
01/31/2023
MGI 6.22
The Jackson Laboratory