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General Information
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| Term |
developmental and epileptic encephalopathy 82 |
ID (Ontology) |
DOID:0080715 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. |
| Also Known As |
"DEE82" ; "early infantile epileptic encephalopathy 82" |
| 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 82 | 1 | for disease ribbon | developmental and epileptic encephalopathy 82 | 1 | model of | developmental and epileptic encephalopathy 82 | 1 |
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Relationships