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General Information
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| Term |
developmental and epileptic encephalopathy 57 |
ID (Ontology) |
DOID:0080284 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. |
| Also Known As |
"DEE57" ; "early infantile epileptic encephalopathy 57" |
| 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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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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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 | Human Disease Models |
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developmental and epileptic encephalopathy 57 | 1 | 1 | for disease ribbon | developmental and epileptic encephalopathy 57 | 1 | -- | model of | developmental and epileptic encephalopathy 57 | 1 | -- |
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Relationships