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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:0002558 | Supernumerary nipple |
| HP:0002421 | Poor head control |
| HP:0001332 | Dystonia |
| HP:0000817 | Reduced eye contact |
| HP:0001263 | Global developmental delay |
| HP:0002019 | Constipation |
| HP:0001265 | Hyporeflexia |
| HP:0001508 | Failure to thrive |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000510 | Rod-cone dystrophy |
