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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:0001272 | Cerebellar atrophy |
| HP:0003593 | Infantile onset |
| HP:0003487 | Babinski sign |
| HP:0001252 | Hypotonia |
| HP:0011097 | Epileptic spasm |
| HP:0200134 | Epileptic encephalopathy |
| HP:0100660 | Dyskinesia |
| HP:0011968 | Feeding difficulties |
| HP:0007371 | Corpus callosum atrophy |
| HP:0007359 | Focal-onset seizure |
