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Disease Ontology Browser
Koolen de Vries syndrome (DOID:0050880)
Alliance: disease page
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_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/17/2024
MGI 6.24 		The Jackson Laboratory