WormBase Tree Display for DO_term: DOID:0070395
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| DOID:0070395 | Name | developmental and epileptic encephalopathy 110 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. | ||||
| Synonym | Exact | DEE110 | |||
| early infantile epileptic encephalopathy 110 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 620149 | |
| Attribute_of | Gene_by_orthology | WBGene00006772 | |||
| WBGene00007041 |
