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developmental and epileptic encephalopathy 83
Summary
- Synonym
-
- DEE83
- early infantile epileptic encephalopathy 83
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112218
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001344 | Absent speech |
| HP:0000341 | Narrow forehead |
| HP:0002273 | Tetraparesis |
| HP:0012450 | Chronic constipation |
| HP:0002007 | Frontal bossing |
| HP:0000369 | Low-set ears |
| HP:0002553 | Highly arched eyebrow |
| HP:0000286 | Epicanthus |
| HP:0002187 | Intellectual disability, profound |
| HP:0008872 | Feeding difficulties in infancy |
