Term Name: | developmental and epileptic encephalopathy 102 |
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Synonyms: | DEE102, early infantile epileptic encephalopathy 102 |
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. |
Ontology: | Human Disease [DOID:0070388] ( DOID:0070388 ) |