Summary Literature (0)

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_physical_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,

Echinobase Genes : kansl1


OMIM:

MIM:610443 - koolen-de vries syndrome; kdvs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee