developmental and epileptic encephalopathy 119 Disease Ontology Browser

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developmental and epileptic encephalopathy 119 (DOID:0051088)
Alliance: disease page
Alt IDs: OMIM:621304
Definition: A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12.

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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