WormBase Tree Display for DO_term: DOID:0080452
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| DOID:0080452 | Name | developmental and epileptic encephalopathy 28 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. | ||||
| Synonym | Exact | DEE28 | |||
| early infantile epileptic encephalopathy 28 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 616211 | |
| Attribute_of | Gene_by_orthology | WBGene00000971 | |||
| WBGene00000972 | |||||
| WBGene00010762 | |||||
| WBGene00017082 | |||||
| WBGene00017131 | |||||
| WBGene00017971 |
