Term Name: | developmental and epileptic encephalopathy 110 |
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Synonyms: | DEE110, early infantile epileptic encephalopathy 110 |
Definition: | A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. |
Ontology: | Human Disease [DOID:0070395] ( DOID:0070395 ) |