Term Name: | developmental and epileptic encephalopathy 37 |
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Synonyms: | DEE37, early infantile epileptic encephalopathy 37 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. |
Ontology: | Human Disease [DOID:0080435] ( DOID:0080435 ) |