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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001332 | Dystonia |
| HP:0011968 | Feeding difficulties |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0001263 | Global developmental delay |
| HP:0003487 | Babinski sign |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002188 | Delayed CNS myelination |
| HP:0001272 | Cerebellar atrophy |
| HP:0003623 | Neonatal onset |
| HP:0001250 | Seizure |
