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General Information
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| Term |
developmental and epileptic encephalopathy 70 |
ID (Ontology) |
DOID:0112206 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. |
| Also Known As |
"DEE70" ; "early infantile epileptic encephalopathy 70" |
| 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 70 | 1 | for disease ribbon | developmental and epileptic encephalopathy 70 | 1 | model of | developmental and epileptic encephalopathy 70 | 1 |
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Relationships