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developmental and epileptic encephalopathy 84
Summary
- Synonym
-
- DEE84
- Jamuar syndrome
- early infantile epileptic encephalopathy 84
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112219
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60701 | UDP-glucose 6-dehydrogenase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001347 | Hyperreflexia |
| HP:0000508 | Ptosis |
| HP:0008936 | Axial hypotonia |
| HP:0000286 | Epicanthus |
| HP:0002179 | Opisthotonus |
| HP:0011344 | Severe global developmental delay |
| HP:0001257 | Spasticity |
| HP:0000179 | Thick lower lip vermilion |
| HP:0002072 | Chorea |
| HP:0010851 | EEG with burst suppression |
