FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term developmental and epileptic encephalopathy 93 ID (Ontology) DOID:0112275 (Human Disease)
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.
Also Known As "DEE93" ; "IECEE3" ; "infantile or early childhood epileptic encephalopathy 3"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 developmental and epileptic encephalopathy 93       3
 for disease ribbon | developmental and epileptic encephalopathy 93       3
 model of | developmental and epileptic encephalopathy 93       3
Spanning Tree (Parents/Children)
Only view relationship: 
electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 93  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
developmental and epileptic encephalopathy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "DEE93" EXACT OMO:0003012
    "IECEE3" EXACT OMO:0003012
    "infantile or early childhood epileptic encephalopathy 3" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:618012