Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
developmental and epileptic encephalopathy 51
Summary
- Synonym
-
- DEE51
- early infantile epileptic encephalopathy 51
- 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.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080433
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P40926 | Malate dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001344 | Absent speech |
| HP:0002188 | Delayed CNS myelination |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0001250 | Seizure |
| HP:0001324 | Muscle weakness |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002540 | Inability to walk |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002490 | Increased CSF lactate |
| HP:0000486 | Strabismus |
