WormBase Tree Display for DO_term: DOID:0070393
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| DOID:0070393 | Name | developmental and epileptic encephalopathy 107 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. | ||||
| Synonym | Exact | DEE107 | |||
| early infantile epileptic encephalopathy 107 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 620033 | |
| Attribute_of | Gene_by_orthology | WBGene00017016 |
