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 51 ID (Ontology) DOID:0080433 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.
Also Known As "DEE51" ; "early infantile epileptic encephalopathy 51"
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 51       3
 for disease ribbon | developmental and epileptic encephalopathy 51       3
 model of | developmental and epileptic encephalopathy 51       3
Spanning Tree (Parents/Children)
Only view relationship: 
electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 51  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
developmental and epileptic encephalopathy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "DEE51" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 51" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:617339