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Disease Ontology Browser
developmental and epileptic encephalopathy 60 (DOID:0080432)
Alliance: disease page
Synonyms: DEE60; early infantile epileptic encephalopathy 60
Alt IDs: OMIM:617929
Definition: A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.

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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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11/12/2024
MGI 6.24 		The Jackson Laboratory