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DOID:0050880 - Koolen de Vries syndrome
Disease Ontology 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.
Synonyms: 17q21.31 microdeletion syndrome, KANSL1-related intellectual disability syndrome, KdVS, Koolen-De Vries syndrome
Xenbase Genes
:
kansl1
| MONDO:0012496 - Koolen-de Vries syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)