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General Information
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| Term |
developmental and epileptic encephalopathy 72 |
ID (Ontology) |
DOID:0112208 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. |
| Also Known As |
"DEE72" ; "early infantile epileptic encephalopathy 72" |
| 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 72 | 1 | for disease ribbon | developmental and epileptic encephalopathy 72 | 1 | model of | developmental and epileptic encephalopathy 72 | 1 |
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Relationships