Koolen de Vries syndrome

Term ID

DOID:0050880

Synonyms

• 17q21.31 microdeletion syndrome
• KANSL1-related intellectual disability syndrome
• KdVS
• Koolen-De Vries syndrome

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)

References

• GARD:10727
• OMIM:610443
• ORDO:96169

Ontology

Human Disease   ( DOID:0050880 )