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General Information
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| Term |
developmental delay, dysmorphic facies, and brain anomalies |
ID (Ontology) |
DOID:0060933 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. |
| Also Known As |
"DEVDFB" |
| 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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| 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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| Alleles | Genes | Human Disease Models |
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developmental delay, dysmorphic facies, and brain anomalies | 5 | 3 | 1 | for disease ribbon | developmental delay, dysmorphic facies, and brain anomalies | -- | 2 | -- | model of | developmental delay, dysmorphic facies, and brain anomalies | 5 | 2 | -- |
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Relationships