Search Ontology:
Human Disease
Koolen de Vries syndrome
- Term ID
- DOID:0050880
- Synonyms
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- 17q21.31 microdeletion syndrome
- KANSL1-related intellectual disability syndrome
- KdVS
- Koolen-De Vries syndrome
- 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. (9)
- References
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- GARD:10727
- MIM:610443
- ORDO:96169
- Ontology
- Human Disease ( DOID:0050880 )
- is a type of
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