WormBase Tree Display for DO_term: DOID:0080438
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DOID:0080438 | Name | developmental and epileptic encephalopathy 5 | |||
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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 |