developmental and epileptic encephalopathy 31B Disease Ontology Browser

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Disease Ontology Browser

developmental and epileptic encephalopathy 31B (DOID:0070376)
Alliance: disease page
Synonyms: DEE31B
Alt IDs: OMIM:620352
Definition: A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.

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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