Term Name: | developmental and epileptic encephalopathy 40 |
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Synonyms: | DEE40, early infantile epileptic encephalopathy 40 |
Definition: | A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. |
Ontology: | Human Disease [DOID:0080427] ( DOID:0080427 ) |