developmental and epileptic encephalopathy 93

Summary

DOID:0112275 - developmental and epileptic encephalopathy 93

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.

Synonyms: DEE93, IECEE3, infantile or early childhood epileptic encephalopathy 3

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

: atp6v1a

MIM:

MIM:618012 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93

MIM:618012 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93

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)