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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
:
ppp3ca
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)