WormBase Tree Display for DO_term: DOID:0080417
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| DOID:0080417 | Name | developmental and epileptic encephalopathy 38 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. | ||||
| Synonym | Exact | DEE38 | |||
| early infantile epileptic encephalopathy 38 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 617020 | |
| Attribute_of | Gene_by_orthology | WBGene00011040 |
