Term Name: | developmental and epileptic encephalopathy 63 |
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Synonyms: | DEE63, early infantile epileptic encephalopathy 63 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. |
Ontology: | Human Disease [DOID:0080426] ( DOID:0080426 ) |