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Echinobase
Summary Literature (0)
DOID:0070076 - Koolen-De Vries syndrome

Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31.

Synonyms: chromosome 17q21.31 deletion syndrome, microdeletion 17q21.31 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
Parent(s): autosomal dominant intellectual developmental disorder (is_a)