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General Information
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| Term |
developmental and epileptic encephalopathy 81 |
ID (Ontology) |
DOID:0112217 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. |
| Also Known As |
"DEE81" ; "early infantile epileptic encephalopathy 81" |
| 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 81 | 1 | for disease ribbon | developmental and epileptic encephalopathy 81 | 1 | model of | developmental and epileptic encephalopathy 81 | 1 |
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Relationships