WormBase Tree Display for DO_term: DOID:0080438
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| DOID:0080438 | Name | developmental and epileptic encephalopathy 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. | ||||
| Synonym | Exact | DEE5 | |||
| early infantile epileptic encephalopathy 5 | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 613477 | |
| Attribute_of | Gene_by_orthology | WBGene00004951 |
