Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0112219 - developmental and epileptic encephalopathy 84

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14.

Synonyms: DEE84, early infantile epileptic encephalopathy 84, Jamuar syndrome

Xenbase Genes :


MIM:
MIM:618792 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), developmental and epileptic encephalopathy (is_a)