Term Name: | developmental and epileptic encephalopathy 101 |
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Synonyms: | DEE101, early infantile epileptic encephalopathy 101 |
Definition: | A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0070387] ( DOID:0070387 ) |