Term Name: | developmental and epileptic encephalopathy 64 |
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Synonyms: | DEE64, early infantile epileptic encephalopathy 64 |
Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. |
Ontology: | Human Disease [DOID:0070375] ( DOID:0070375 ) |