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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
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P40926 | Malate dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001324 | Muscle weakness |
| HP:0011097 | Epileptic spasm |
| HP:0002019 | Constipation |
| HP:0001252 | Hypotonia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002490 | Increased CSF lactate |
| HP:0000510 | Rod-cone dystrophy |
| HP:0007359 | Focal-onset seizure |
