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General Information
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| Term |
developmental and epileptic encephalopathy 86 |
ID (Ontology) |
DOID:0112220 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. |
| Also Known As |
"DEE86" ; "early infantile epileptic encephalopathy 86" |
| 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 86 | 1 | for disease ribbon | developmental and epileptic encephalopathy 86 | 1 | model of | developmental and epileptic encephalopathy 86 | 1 |
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Relationships