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General Information
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| Term |
developmental and epileptic encephalopathy 65 |
ID (Ontology) |
DOID:0080430 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. |
| Also Known As |
"DEE65" ; "early infantile epileptic encephalopathy 65" |
| 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 65 | 1 | for disease ribbon | developmental and epileptic encephalopathy 65 | 1 | model of | developmental and epileptic encephalopathy 65 | 1 |
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Relationships