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General Information
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| Term |
Koolen de Vries syndrome |
ID (Ontology) |
DOID:0050880 (Human Disease) |
| Definition |
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. |
| Also Known As |
"17q21.31 microdeletion syndrome" ; "KANSL1-related intellectual disability syndrome" ; "KdVS" (for all, see Synonyms field below) |
| 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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | 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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Koolen de Vries syndrome | 1 | 1 | 1 | for disease ribbon | Koolen de Vries syndrome | -- | 1 | -- | model of | Koolen de Vries syndrome | 1 | 1 | -- |
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Relationships