developmental and epileptic encephalopathy 64

Summary

DOID:0070375 - developmental and epileptic encephalopathy 64

Disease Ontology 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.

Synonyms: DEE64, early infantile epileptic encephalopathy 64

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rhobtb2

MIM:

MIM:618004 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64; DEE64

MIM:618004 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64; DEE64

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), developmental and epileptic encephalopathy (is_a)