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developmental and epileptic encephalopathy 71
Summary
- Synonym
-
- DEE71
- early infantile epileptic encephalopathy 71
- glutaminase deficiency with neonatal epileptic encephalopathy
- Definition
- A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112207
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007305 | CNS demyelination |
| HP:0002093 | Respiratory insufficiency |
| HP:0200134 | Epileptic encephalopathy |
| HP:0001250 | Seizure |
| HP:0010851 | EEG with burst suppression |
| HP:0002878 | Respiratory failure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0009879 | Simplified gyral pattern |
| HP:0002171 | Gliosis |
| HP:0012196 | Cheyne-Stokes respiration |
