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General Information
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| Term |
developmental and epileptic encephalopathy 73 |
ID (Ontology) |
DOID:0112209 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. |
| Also Known As |
"DEE73" ; "early infantile epileptic encephalopathy 73" |
| 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 73 | 1 | for disease ribbon | developmental and epileptic encephalopathy 73 | 1 | model of | developmental and epileptic encephalopathy 73 | 1 |
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Relationships