Term Name: developmental and epileptic encephalopathy 64
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 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy