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General Information
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| Term |
neurodevelopmental disorder with or without autism or seizures |
ID (Ontology) |
DOID:0061147 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. |
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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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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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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 | Human Disease Models |
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neurodevelopmental disorder with or without autism or seizures | 1 | 1 | for disease ribbon | neurodevelopmental disorder with or without autism or seizures | 1 | -- | model of | neurodevelopmental disorder with or without autism or seizures | 1 | -- |
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Relationships