WormBase Tree Display for DO_term: DOID:0080464
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| DOID:0080464 | Name | developmental and epileptic encephalopathy 53 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. | ||||
| Synonym | Exact | DEE53 | |||
| early infantile epileptic encephalopathy 53 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 617389 | |
| Attribute_of | Gene_by_orthology | WBGene00006763 |
