developmental and epileptic encephalopathy 102 Disease Ontology Browser

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developmental and epileptic encephalopathy 102 (DOID:0070388)
Alliance: disease page
Synonyms: DEE102; early infantile epileptic encephalopathy 102
Alt IDs: OMIM:619881
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.

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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