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General Information
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| Term |
developmental and epileptic encephalopathy 84 |
ID (Ontology) |
DOID:0112219 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. |
| Also Known As |
"DEE84" ; "early infantile epileptic encephalopathy 84" ; "Jamuar syndrome" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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developmental and epileptic encephalopathy 84 | 1 | for disease ribbon | developmental and epileptic encephalopathy 84 | 1 | model of | developmental and epileptic encephalopathy 84 | 1 |
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Relationships