Search Ontology:
Human Disease

developmental and epileptic encephalopathy 64

Term ID
DOID:0070375
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. (4)
References
Ontology
Human Disease   ( DOID:0070375 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models