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Disease Ontology Browser
Koolen de Vries syndrome (DOID:0050880)
Synonyms: 17q21.31 microdeletion syndrome; KANSL1-related intellectual disability syndrome; KdVS; Koolen-De Vries syndrome
Alt IDs: OMIM:610443, ORDO:96169
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_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory