developmental and epileptic encephalopathy 91

Summary

DOID:0080472 - developmental and epileptic encephalopathy 91

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.

Synonyms: infantile or early childhood epileptic encephalopathy 1

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

: ppp3ca

MIM:

MIM:617711 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91; DEE91

MIM:617711 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91; DEE91

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), electroclinical syndrome (is_a)