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Disease Ontology Browser
developmental and epileptic encephalopathy 72 (DOID:0112208)
Alliance: disease page
Synonyms: DEE72; early infantile epileptic encephalopathy 72
Alt IDs: OMIM:618374
Definition: A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.

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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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11/19/2024
MGI 6.24 		The Jackson Laboratory