|OBO ID: DOID:0050880|
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.
|Term Name:||Koolen de Vries syndrome||Search 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. (9)|
|Ontology:||Human Disease (DOID:0050880)|
|is a type of:||