developmental and epileptic encephalopathy 64 (DOID:0070375)
Alliance: disease page
Synonyms: DEE64; early infantile epileptic encephalopathy 64
Alt IDs: OMIM:618004
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.